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Encyclopedia > Down syndrome
Down syndrome
Classification & external resources
Boy with Down syndrome assembling a bookcase
ICD-10 Q90.
ICD-9 758.0
OMIM 190685
DiseasesDB 3898
MedlinePlus 000997
eMedicine ped/615 
MeSH D004314

Down syndrome or trisomy 21 (usually Down's Syndrome in British English[1]) is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British doctor who described it in 1866. The disorder was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959. The condition is characterized by a combination of major and minor differences in structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. Down syndrome can be identified during pregnancy or at birth. Image File history File links Drill. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... A genetic disorder is a condition caused by abnormalities in genes or chromosomes. ... Chromosome 21 is one of the 23 pairs of chromosomes in humans. ... John Langdon Haydon Down (November 18, 1828-October 7, 1896) was a British doctor best known for his description of what is now called Down syndrome. ... See also: Other events of 1866 List of years in science . ... Jérôme Jean Louis Marie Lejeune (Montrouge, France; June 26, 1926-April 3, 1994) was a French Catholic anti-abortion paediatrician and geneticist, best known for his discovery of the link of diseases to chromosomal defects. ... Look up Cognition in Wiktionary, the free dictionary. ... This article or section does not cite its references or sources. ...


Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate learning disabilities. A small number have severe to profound mental disability. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by, in particular, the age of the mother. Other factors may also play a role. In broad terms, the phrase learning disability covers any of a range of conditions that affect a persons ability to learn new information. ... Incidence is a measure of the risk of developing some new condition within a specified period of time. ...


Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes. They may include a single transverse palmar crease (a single instead of a double crease across one or both palms), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures, shorter limbs, poor muscle tone, a larger than normal space between the big and second toes, and protruding tongue. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases that people typically have. ... An epicanthal fold, epicanthic fold or epicanthus is a skin fold of the upper eyelid (from the nose to the inner side of the eyebrow) covering the inner corner (medial canthus) of the eye. ... Palpebral fissure is the anatomic name for the separation between the upper and lower eyelids. ... A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels of a newborn. ... Gastroesophageal Reflux Disease (GERD or GORD using the British Å“sophageal) is defined as chronic symptoms or mucosal damage produced by the abnormal reflux in the esophagus[1]. This is commonly due to transient or permanent changes in the barrier between the esophagus and the stomach. ... Otitis is a general term for inflammation of the ear. ... This article needs cleanup. ...


Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Although some of the physical genetic limitations of Down syndrome cannot be overcome, education and proper care will improve quality of life.[2] Early Childhood Intervention is a support system for children with disabilities and their families. ...

Contents

Characteristics

Example of white spots on the iris known as Brushfield spots
Example of white spots on the iris known as Brushfield spots

Individuals with Down syndrome may have some or all of the following physical characteristics: oblique eye fissures with epicanthic skin folds on the inner corner of the eyes, muscle hypotonia (poor muscle tone), a flat nasal bridge, a single palmar fold, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils), a short neck, white spots on the iris known as Brushfield spots,[3] excessive joint laxity including atlanto-axial instability , congenital heart defects, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, and a higher number of ulnar loop dermatoglyphs. Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range,[4] with individuals having Mosaic Down syndrome (explained below) typically 10–30 points higher.[5] In addition, individuals with Down syndrome can have serious abnormalities affecting any body system. Image File history File linksMetadata Brushfield. ... Image File history File linksMetadata Brushfield. ... In anatomy, the iris (plural irises or irides) is the most visible part of the eye of vertebrates, including humans. ... Brushfield spots are small white spots on the periphery of the iris and are a feature of Down syndrome. ... A young woman with an epicanthal fold on both eyes Eye with epicanthal fold An epicanthal fold, epicanthic fold, or epicanthus is a skin fold of the upper eyelid (from the nose to the inner side of the eyebrow) covering the inner corner (medial canthus) of the human eye. ... Hypotonia is a condition of abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. ... In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases that people typically have. ... For other uses, see Eye (disambiguation). ... Brushfield spots are small white spots on the periphery of the iris and are a feature of Down syndrome. ... A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels of a newborn. ... Toes on foot. ... In anatomy, Flexion is movement whereby bones or other objects are brought closer together. ... Dermatoglyphics (from ancient Greek derma = skin, glyph = carving) is the scientific study of fingerprints. ... Mental retardation is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal global intellectual capacity as an adult. ... IQ redirects here; for other uses of that term, see IQ (disambiguation). ...


Genetics

Main article: Genetic origins of Down syndrome
Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21
Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21

Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history, and pure chance. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees[6] and mice. Recently, researchers have created transgenic mice with most of human chromosome 21 (in addition to the normal mouse chromosomes).[7] The extra chromosomal material can come about in several distinct ways. A typical human karyotype is designated as 46,XX or 46,XY, indicating 46 chromosomes with an XX arrangement typical of females and 46 chromosomes with an XY arrangement typical of males.[8] Chromosome 21 from Human Genome Program Normal human Karyotype. ... Image File history File links Download high resolution version (1003x1059, 103 KB) Summary Human Genome Project Licensing File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... Image File history File links Download high resolution version (1003x1059, 103 KB) Summary Human Genome Project Licensing File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... Karyogram of human male using Giemsa staining. ... Chromosome 21 is one of the 23 pairs of chromosomes in humans. ... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... Chromosomal translocation of the 4th and 20th chromosome. ... A genetically modified organism is an organism whose genetic material has been deliberately altered. ...


Trisomy 21

Trisomy 21 (47,XX,+21) is caused by a meiotic nondisjunction event. With nondisjunction, a gamete (i.e., a sperm or egg cell) is produced with an extra copy of chromosome 21; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo now has 47 chromosomes, with three copies of chromosome 21. Trisomy 21 is the cause of approximately 95% of observed Down syndromes, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete.[9] For the figure of speech, see meiosis (figure of speech). ... Nondisjunction is the failure of the chromosomes to properly segregate during meiotic or mitotic anaphase, resulting in daughter cells with abnormal numbers of chromosomes. ... A gamete (from Ancient Greek γαμετης; translated gamete = wife, gametes = husband) is a cell that fuses with another gamete during fertilization (conception) in organisms that reproduce sexually. ... For other uses, see Embryo (disambiguation). ...


Mosaicism

Trisomy 21 is caused prior to conception, and all cells in the body are affected. However, when some of the cells in the body are normal and other cells have trisomy 21, it is called Mosaic Down syndrome (46,XX/47,XX,+21).[10] This can occur in one of two ways: A nondisjunction event during an early cell division in a normal embryo leads to a fraction of the cells with trisomy 21; or a Down syndrome embryo undergoes nondisjunction and some of the cells in the embryo revert to the normal chromosomal arrangement. There is considerable variability in the fraction of trisomy 21, both as a whole and among tissues. This is the cause of 1–2% of the observed Down syndromes.[9] In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ... Nondisjunction is the failure of the chromosomes to properly segregate during meiotic or mitotic anaphase, resulting in daughter cells with abnormal numbers of chromosomes. ...


Robertsonian translocation

The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian translocation. In this case, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14 (45,XX, t(14;21q)) or itself (called an isochromosome, 45,XX, t(21q;21q)). Normal disjunctions leading to gametes have a significant chance of creating a gamete with an extra chromosome 21. Translocation Down syndrome is often referred to as familial Down syndrome. It is the cause of 2–3% of observed cases of Down syndrome.[9] It does not show the maternal age effect, and is just as likely to have come from fathers as mothers. Robertsonian translocation is a common form of chromosomal rearrangement that occurs in the five acrocentric human chromosome pairs, namely 13, 14, 15, 21, and 22. ... Chromosome 14 is one of the 23 pairs of chromosomes in humans. ... An isochromosome is a chromosome which has lost one of its arms and replaced it with an exact copy of the other arm. ... Logical disjunction (usual symbol or) is a logical operator that results in true if either of the operands is true. ...


Duplication of a portion of chromosome 21

Rarely, a region of chromosome 21 will undergo a duplication event. This will lead to extra copies of some, but not all, of the genes on chromosome 21 (46,XX, dup(21q)).[11] If the duplicated region has genes that are responsible for Down syndrome physical and mental characteristics, such individuals will show those characteristics. This cause is very rare and no rate estimates are available.


Incidence

Graph showing increased chance of Down syndrome compared to maternal age.
Graph showing increased chance of Down syndrome compared to maternal age.

The incidence of Down syndrome is estimated at 1 per 800 to 1 per 1000 births.[12] In 2006, the Center for Disease Control estimated the rate as 1 per 733 live births in the United States (5429 new cases per year).[13] Approximately 95% of these are trisomy 21. Down syndrome occurs in all ethnic groups and among all economic classes. Image File history File links No higher resolution available. ... Image File history File links No higher resolution available. ... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ...


Maternal age influences the chances of conceiving a baby with Down syndrome. At maternal age 20 to 24, the probability is 1/1490; at age 40 the probability is 1/60, and at age 49 the probability is 1/11.[14] Although the probability increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35,[15] reflecting the overall fertility of that age group. Recent data also suggest that paternal age also increases the risk of Down Syndrome manifesting in pregnancies in older mothers.[16] Graph showing increased risk of Down Syndrome over time The maternal age effect describes the exponentially increasing risks of chromosomal abnormalities as a prospective mother ages. ...


Prenatal screening

Pregnant women can be screened for various complications during pregnancy. Many standard prenatal screens can discover Down syndrome. Genetic counseling along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems. Genetic screens are often performed on pregnant women older than 30 or 35. Genetic counseling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or... Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ... Amniocentesis (also referred to as amniotic fluid test or AFT), is a medical procedure used in prenatal diagnosis of genetic risk factors, in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA... Chorionic villus sampling (CVS) is a form of prenatal diagnosis to determine genetic abnormalities in the fetus. ...


Amniocentesis and CVS are considered invasive procedures, in that they involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage. There are several common non-invasive screens that can indicate a fetus with Down syndrome. These are normally performed in the late first trimester or early second trimester. Due to the nature of screens, each has a significant chance of a false positive, suggesting a fetus with Down syndrome when, in fact, the fetus does not have this genetic abnormality. Screen positives must be verified before a Down syndrome diagnosis is made. Common screening procedures for Down syndrome are given in Table 1. Type I errors (or α error, or false positive) and type II errors (β error, or a false negative) are two terms used to describe statistical errors. ...

Table 1: Common first and second trimester Down syndrome screens
Screen When performed (weeks gestation) Detection rate False positive rate Description
Triple screen 15–20 75% 8.5% This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), and human chorionic gonadotropin (hCG, a pregnancy hormone).[17]
Quad screen 15–20 79% 7.5% This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), human chorionic gonadotropin (hCG, a pregnancy hormone), and high inhibin-Alpha (INHA).[17]
AFP/free beta screen 13–22 80% 2.8% This test measures the alpha feto protein, produced by the fetus, and free beta hCG, produced by the placenta.
Nuchal translucency/free beta/PAPPA screen 10–13.5 91%[18] 5%[18] Uses ultrasound to measure Nuchal Translucency in addition to the freeBeta hCG and PAPPA (pregnancy-associated plasma protein A). NIH has confirmed that this first trimester test is more accurate than second trimester screening methods.[19]
Ultrasound of fetus with Down syndrome and megacystis
Ultrasound of fetus with Down syndrome and megacystis

Even with the best non-invasive screens, the detection rate is 90%–95% and the rate of false positive is 2%–5%. False positives can be caused by undetected multiple fetuses (very rare with the ultrasound tests), incorrect date of pregnancy, or normal variation in the proteins. Gestation is the carrying of an embryo or fetus inside a female viviparous animal. ... Type I errors (or α error, or false positive) and type II errors (β error, or a false negative) are two terms used to describe statistical errors. ... Alpha-fetoprotein (AFP) is a protein that is normally only produced in the foetus during its development. ... Chemical structure of estriol Estriol (also oestriol) is one of the three main estrogens produced by the human body. ... Human chorionic gonadotropin (hCG) is a peptide hormone produced in pregnancy, that is made by the embryo soon after conception and later by the syncytiotrophoblast (part of the placenta). ... Alpha-fetoprotein (AFP) is a protein that is normally only produced in the foetus during its development. ... Chemical structure of estriol Estriol (also oestriol) is one of the three main estrogens produced by the human body. ... Human chorionic gonadotropin (hCG) is a peptide hormone produced in pregnancy, that is made by the embryo soon after conception and later by the syncytiotrophoblast (part of the placenta). ... Inhibin is a peptide that is an inhibitor of FSH synthesis and secretion and participates in the regulation of the menstrual cycle. ... Alpha-fetoprotein (AFP) is a protein that is normally only produced in the foetus during its development. ... The placenta is a sack of fat present in placental vertebrates, such as some mammals and sharks during gestation (pregnancy). ... For other uses, see Ultrasound (disambiguation). ... Late in the first trimester, an echolucent area can be identified at the back of the neck of normal fetuses. ... Human chorionic gonadotropin (hCG) is a peptide hormone produced in pregnancy, that is made by the embryo soon after conception and later by the syncytiotrophoblast (part of the placenta). ... Pregnancy-associated plasma protein A is a protein used in screening tests for Down syndrome. ... Image File history File links Vessie_T21. ... Image File history File links Vessie_T21. ... Megacystis is a rare disease that is identified by an abnormally large or distended bladder. ... Type I errors (or α error, or false positive) and type II errors (β error, or a false negative) are two terms used to describe statistical errors. ...


Confirmation of screen positive is normally accomplished with amniocentesis or chorionic villus sampling (CVS). Amniocentesis is an invasive procedure and involves taking amniotic fluid from the mother and identifying fetal cells. The lab work can take several weeks but will detect over 99.8% of all numerical chromosomal problems with a very low false positive rate. [20] Amniocentesis (also referred to as amniotic fluid test or AFT), is a medical procedure used in prenatal diagnosis of genetic risk factors, in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA... Chorionic villus sampling (CVS) is a form of prenatal diagnosis to determine genetic abnormalities in the fetus. ... Amniocentesis (also referred to as amniotic fluid test or AFT), is a medical procedure used in prenatal diagnosis of genetic risk factors, in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA... The amniotic sac is a tough but thin transparent pair of membranes which holds a developing embryo (and later fetus) until shortly before birth. ...


Due to the low incidence of Down syndrome, a vast majority of early screen positives are false.[21] Since false positives typically prompt an amniocentesis to confirm the result, and the amniocentesis carries a small risk of inducing miscarriage, there is a slight risk of miscarrying a healthy fetus. (The added miscarriage risk from an amniocentesis is traditionally quoted as 0.5%, but recent studies suggest that it may be considerably smaller (0.06% with a 95% CI of 0 to 0.5%).[22]) Miscarriage or spontaneous abortion is the natural or spontaneous end of a pregnancy at a stage where the embryo or the fetus is incapable of surviving, generally defined in humans at a gestation of prior to 20 weeks. ...


A 2002 literature review of elective abortion rates found that 91–93% of pregnancies with a diagnosis of Down syndrome were terminated.[23] Physicians and ethicists are concerned about the ethical ramifications,[24] with some commentators calling it "eugenics by abortion".[25] Many members of the disability rights movement "believe that public support for prenatal diagnosis and abortion based on disability contravenes the movement's basic philosophy and goals."[26] Eugenics is the self-direction of human evolution: Logo from the Second International Eugenics Conference [7], 1921, depicting it as a tree which unites a variety of different fields. ... The disability rights movement aims to improve the quality of life of people with disabilities. ...


Cognitive development

Cognitive development in children with Down syndrome is quite variable. It is not currently possible at birth to predict the capabilities of any individual reliably, nor are the number or appearance of physical features predictive of future ability. The identification of the best methods of teaching each particular child ideally begins soon after birth through early intervention programs.[27] Since children with Down syndrome have a wide range of abilities, success at school can vary greatly, which underlines the importance of evaluating children individually. The cognitive problems that are found among children with Down syndrome can also be found among typical children. Therefore, parents can use general programs that are offered through the schools or other means. Language skills show a difference between understanding speech and expressing speech. It is not uncommon for children with Down Syndrome to have a speech delay, although it is common for them to need speech therapy to help with expressive language.[28] Fine motor skills are delayed[29] and often lag behind gross motor skills and can interfere with cognitive development. Gross Motor Skills can be affected anywhere from minor to major. Some children will walk at around 2 while others around 4. A physical therapist or APE will help a child with this. [30] Cognitive development procesess and theories Cognitive development refers to ...how a person perceives, thinks, and gains an understanding of his or her world through the interaction and influence of genetic and learned factors (Straughan, 1999) Jean Piaget was a psychologist who believed there are stages of cognitive development that each... Fine motor skills can be defined as small muscle movements which occur in the fingers, in coordination with the eyes. ... The term gross motor skills refers to the abilities usually acquired through infancy to early childhood as part of the childs motor development. ...


Individuals with Down syndrome differ considerably in their language and communication skills. It is routine to screen for middle ear problems and hearing loss; low gain hearing aids or other amplification devices can be useful for language learning. Early communication intervention fosters linguistic skills. Language assessments can help profile strengths and weaknesses; for example, it is common for receptive language skills to exceed expressive skills. Individualized speech therapy can target specific speech errors, increase speech intelligibility, and in some cases encourage advanced language and literacy. Augmentative and alternative communication (AAC) methods, such as pointing, body language, objects, or graphics are often used to aid communication. Relatively little research has focused on the effectiveness of communications intervention strategies.[31] Augmentative and alternative communication (AAC) refers to an area of research, clinical, and educational practice. ...


In education, mainstreaming of children with Down syndrome is becoming less controversial in many countries. For example, there is a presumption of mainstream in many parts of the UK. Mainstreaming is the process whereby students of differing abilities are placed in classes with their chronological peers. Children with Down syndrome may not age emotionally/socially and intellectually at the same rates as children without Down syndrome, so over time the intellectual and emotional gap between children with and without Down syndrome may widen. Complex thinking as required in sciences but also in history, the arts, and other subjects can often be beyond the abilities of some, or achieved much later than in other children. Therefore, children with Down syndrome may benefit from mainstreaming provided that some adjustments are made to the curriculum.[32] Mainstreaming in education is the process of integrating students who have special needs into regular school classes. ...


Some European countries such as Germany and Denmark advise a two-teacher system, whereby the second teacher takes over a group of children with disabilities within the class. A popular alternative is cooperation between special schools and mainstream schools. In cooperation, the core subjects are taught in separate classes, which neither slows down the typical students nor neglects the students with disabilities. Social activities, outings, and many sports and arts activities are performed together, as are all breaks and meals.[33] A special school is a school catering to students who have special educational needs (SEN), for example, because of learning difficulties or physical disabilities. ...


Health

Main article: Health aspects of Down syndrome

The medical consequences of the extra genetic material in Down syndrome are highly variable and may affect the function of any organ system or bodily process. The health aspects of Down syndrome encompass anticipating and preventing effects of the condition, recognizing complications of the disorder, managing individual symptoms, and assisting the individual and his/her family in coping and thriving with any related disability or illnesses.[34] Down syndrome is a genetic disease resulting from the presence of all or part of an extra 21st chromosome. ...


The most common manifestations of Down syndrome are the characteristic facial features, cognitive impairment, congenital heart disease (typically a ventricular septal defect), hearing deficits (maybe due to sensory-neural factors, or chronic serous otitis media, also known as Glue-ear), short stature, thyroid disorders, and Alzheimer's disease. Other less common serious illnesses include leukemia, immune deficiencies, and epilepsy. However, health benefits of Down syndrome include greatly reduced incidence of many common malignancies except leukemia and testicular cancer[35] — although it is, as yet, unclear whether the reduced incidence of various fatal cancers among people with Down syndrome is as a direct result of tumor-suppressor genes on chromosome 21, because of reduced exposure to environmental factors that contribute to cancer risk, or some other as-yet unspecified factor. Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy. Cross-section diagram of a normal human heart. ... A ventricular septal defect (or VSD) is a defect in the ventricular septum (the wall dividing the left and right ventricles of the heart). ... People who are shorter have short stature. ... Leukemia or leukaemia(Greek leukos λευκός, “white”; aima αίμα, “blood”) (see spelling differences) is a cancer of the blood or bone marrow and is characterized by an abnormal proliferation (production by multiplication) of blood cells, usually white blood cells (leukocytes). ... In medicine, immune deficiency (or immunodeficiency) is a state where the immune system is incapable of defending the organism from infectious disease. ... In epidemiology, environmental factors are those determinants of disease that are not transmitted genetically. ...


Life expectancy

These factors can contribute to a shorter life expectancy for people with Down syndrome. One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups.[36] However, in recent decades, the life expectancy among persons with Down Syndrome has increased significantly up from 25 years in 1980. The causes of death have also changed, with chronic neurodegenerative diseases becoming more common as the population ages.


Fertility

Fertility amongst both males and females is reduced,[37] with only three recorded instances of males with Down syndrome fathering children.[38][39]


Genetic research

Main article: Research of Down syndrome-related genes

Down syndrome is “a developmental abnormality characterized by trisomy of human chromosome 21" (Nelson 619). The extra copy of chromosome-21 leads to an over expression of certain genes located on chromosome-21. Research of Down syndrome-related genes is based on studying the genes located on chromosome 21. ... A trisomy means the presence of three (instead of the normal two) chromosomes of a particular numbered type in an organism. ... Chromosome 21 is one of the 23 pairs of chromosomes in humans. ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...


Research by Arron et al shows that some of the phenotypes (displayed genetic characteristics), associated with Down Syndrome can be related to the dysregulation of gene-regulating proteins (596). The gene-regulating proteins bind to DNA and initiate certain segments of DNA to be replicated for the production of a certain protein (Arron et al. 596). The gene-regulator in interest is called NFATc. Its activities are controlled by two proteins, DSCR1 and DYRK1A; these genes are located on chromosome-21 (Epstein 582). In people with Down Syndrome, these proteins have 1.5 times greater concentration than normal (Arron et al. 597). The elevated levels of DSCR1 and DYRK1A mean that most of the NFATc is located in the cytoplasm rather than in the nucleus promoting DNA replication which will produce vital proteins (Epstein 583). The phenotype of an individual organism is either its total physical appearance and constitution, or a specific manifestation of a trait, such as size or eye color, that varies between individuals. ... The structure of part of a DNA double helix Deoxyribonucleic acid, or DNA, is a nucleic acid molecule that contains the genetic instructions used in the development and functioning of all known living organisms. ... Cross section of cell with cytoplasm labeled at center right. ... In cell biology, the nucleus is an organelle, found in most eukaryotic cells, which contains most of the cells genetic material. ... DNA replication. ...


This dysregulation was discovered by testing in transgenic mice. The mice had segments of their chromosomes duplicated to simulate a human chromosome-21 trisomy (Arron et al. 597). A common characteristic of Down Syndrome is poor muscle tone, so a test involving the grip strength of the mice showed that the genetically modified mice had a significantly weaker grip (Arron et al. 596). The mice squeezed a probe with a paw; the modified mice displayed a .2 Newton (measurement of force) weaker grip (Arron et al. 596). Down syndrome is also characterized by increased socialization. Both modified and unmodified mice were observed for social interaction. The modified mice showed as many as 25% more interactions per time period as the unmodified mice (Arron et al. 596). A genetically modified organism is an organism whose genetic material has been deliberately altered. ...


The genes that may be responsible for the phenotypes associated may be located proximal to 21q22.3. Testing by Olson et al, in transgenic mice show the duplicated genes presumed to cause the phenotypes are not enough to cause the exact features. While the mice had sections of multiple genes duplicated to approximate a human chromosome-21 triplication, they only showed slight craniofacial abnormalities (688-690). The transgenic mice were compared to mice that had no gene duplication by measuring distances on various points on their skeletal structure and comparing them to the normal mice (Olson et al. 687). The exact characteristics of Down Syndrome were not observed, so more genes involved for Down Syndrome phenotypes have to be located elsewhere. The phenotype of an individual organism is either its total physical appearance and constitution, or a specific manifestation of a trait, such as size or eye color, that varies between individuals. ...


Reeves et al, using 250 clones of chromosome-21 and specific gene markers, were able to map the gene in mutated bacteria. The testing had 99.7% coverage of the gene with 99.9995% accuracy due to multiple redundancies in the mapping techniques. In the study 225 genes were identified (311-313).


The search for major genes that may be involved in Down syndrome symptoms is normally in the region 21q21–21q22.3. However, studies by Reeves et al. show that 41% of the genes on chromosome-21 have no functional purpose, and only 54% of functional genes have a known protein sequence. Functionality of genes was determined by a computer using exon prediction analysis (312). Exon sequence was obtained by the same procedures of the chromosome-21 mapping. An exon is any region of DNA within a gene, that is transcribed to the final messenger RNA (mRNA) molecule, rather than being spliced out from the transcribed RNA molecule. ... An exon is any region of DNA within a gene, that is transcribed to the final messenger RNA (mRNA) molecule, rather than being spliced out from the transcribed RNA molecule. ...


Research has led to an understanding that two genes located on chromosome-21, that code for proteins that control gene regulators, DSCR1 and DYRK1A can be responsible for some of the phenotypes associated with Down Syndrome. DSCR1 and DYRK1A cannot be blamed outright for the symptoms; there are a lot of genes that have no known purpose. Much more research would be needed to produce any appropriate or ethically acceptable treatment options.


Recent use of transgenic mice to study specific genes in the Down syndrome critical region has yielded some results. APP[40] is an Amyloid beta A4 precursor protein. It is suspected to have a major role in cognitive difficulties.[41] Another gene, ETS2[42] is Avian Erythroblastosis Virus E26 Oncogene Homolog 2. Researchers have "demonstrated that over-expression of ETS2 results in apoptosis. Transgenic mice over-expressing ETS2 developed a smaller thymus and lymphocyte abnormalities, similar to features observed in Down syndrome."[43] Ó GloFish: the first genetically modified animal to be sold as a pet. ... This article is about the animal. ... Amyloid beta (Aβ or Abeta) is a peptide of 39-43 amino acids that is the main constituent of amyloid plaques in the brains of Alzheimers disease patients. ... Amyloid beta (Aβ or Abeta) is a peptide of 39-43 amino acids that is the main constituent of amyloid plaques in the brains of Alzheimers disease patients. ... A section of mouse liver showing an apoptotic cell indicated by an arrow Apoptosis (pronounced apo tō sis) is a process of suicide by a cell in a multicellular organism. ...


Sociological and cultural aspects

Advocates for people with Down syndrome point to various factors, such as additional educational support and parental support groups to improve parenting knowledge and skills. There are also strides being made in education, housing, and social settings to create environments which are accessible and supportive to people with Down syndrome. In most developed countries, since the early twentieth century many people with Down syndrome were housed in institutions or colonies and excluded from society. However, since the early 1960s parents and their organizations (such as MENCAP), educators and other professionals have generally advocated a policy of inclusion,[44] bringing people with any form of mental or physical disability into general society as much as possible. In many countries, people with Down syndrome are educated in the normal school system; there are increasingly higher-quality opportunities to move from special (segregated) education to regular education settings. Look up disability in Wiktionary, the free dictionary. ...


Despite these changes, the additional support needs of people with Down syndrome can still pose a challenge to parents and families. Although living with family is preferable to institutionalization, people with Down syndrome often encounter patronizing attitudes and discrimination in the wider community. Institutionalization is a term used to describe both the treatment of, and damage caused to, vulnerable human beings by the oppressive or corrupt application of inflexible systems of social, medical, or legal controls by publicly owned or not-for-profit organisations originally created for beneficial purposes and intents. ...


The first World Down Syndrome Day was held on 21 March 2006. The day and month were chosen to correspond with 21 and trisomy respectively. It was proclaimed by Down Syndrome International.[45] In the United States, the National Down Syndrome Society observes Down Syndrome Month every October as "a forum for dispelling stereotypes, providing accurate information, and raising awareness of the potential of individuals with Down syndrome."[46] In South Africa, Down Syndrome Awareness Day is held every October 20.[47] World Down Syndrome Day World Down Syndrome Day (WDSD), is on 21 March. ... is the 80th day of the year (81st in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ...


History

Main article: History of Down syndrome

English physician John Langdon Down first characterized Down syndrome as a distinct form of mental disability in 1862, and in a more widely published report in 1866 entitled "Observations on an ethnic classification of idiots".[48] Due to his perception that children with Down syndrome shared physical facial similarities (epicanthal folds) with those of Blumenbach's Mongolian race, Down used terms such as mongolism and Mongolian idiocy.[49] Down wrote that mongolism represented "retrogression," the appearance of Mongoloid traits in the children of allegedly more advanced Caucasian parents. English physician John Langdon Down first characterized Down syndrome as a distinct form of mental retardation in 1862, and in a more widely published report in 1866 entitled Observations on an ethnic classification of idiots.[1] Due to his perception that children with Down syndrome shared physical facial similarities (epicanthal... John Langdon Haydon Down (November 18, 1828-October 7, 1896) was a British doctor best known for his description of what is now called Down syndrome. ... A young woman with an epicanthal fold on both eyes Eye with epicanthal fold An epicanthal fold, epicanthic fold, or epicanthus is a skin fold of the upper eyelid (from the nose to the inner side of the eyebrow) covering the inner corner (medial canthus) of the human eye. ... Johann Friedrich Blumenbach Johann Friedrich Blumenbach (May 11, 1752 - January 22, 1840) was a German physiologist and anthropologist. ... Typical Mongoloid Skull A portrait of the Mongol ruler Genghis Khan; the Mongolians, for which the term Mongoloid was named after, are an example of the prototype Northern Mongoloid. ...


By the 20th century, "Mongolian idiocy" had become the most recognizable form of mental disability. Most individuals with Down syndrome were institutionalized, few of the associated medical problems were treated, and most died in infancy or early adult life. With the rise of the eugenics movement, 33 of the (then) 48 U.S. states and several countries began programs of involuntary sterilization of individuals with Down syndrome and comparable degrees of disability. The ultimate expression of this type of public policy was the German euthanasia program "Action T-4", begun in 1940. Court challenges and public revulsion led to discontinuation or repeal of such programs during the decades after World War II. Institutionalization is a term used to describe both the treatment of, and damage caused to, vulnerable human beings by the oppressive or corrupt application of inflexible systems of social, medical, or legal controls by publicly owned or not-for-profit organisations originally created for beneficial purposes and intents. ... Eugenics is the self-direction of human evolution: Logo from the Second International Eugenics Conference [7], 1921, depicting it as a tree which unites a variety of different fields. ... Federal courts Supreme Court Circuit Courts of Appeal District Courts Elections Presidential elections Midterm elections Political Parties Democratic Republican Third parties State & Local government Governors Legislatures (List) State Courts Local Government Other countries Atlas  US Government Portal      A U.S. state is any one of the fifty subnational entities of... For mercy killings not performed on humans, see Animal euthanasia. ... This poster reads: 60,000 Reichsmark is what this person suffering from hereditary defects costs the community during his lifetime. ... Combatants Allied powers: China France Great Britain Soviet Union United States and others Axis powers: Germany Italy Japan and others Commanders Chiang Kai-shek Charles de Gaulle Winston Churchill Joseph Stalin Franklin Roosevelt Adolf Hitler Benito Mussolini Hideki Tōjō Casualties Military dead: 17,000,000 Civilian dead: 33,000...


Until the middle of the 20th century, the cause of Down syndrome remained unknown. However, the presence in all races, the association with older maternal age, and the rarity of recurrence had been noticed. Standard medical texts assumed it was caused by a combination of inheritable factors which had not been identified. Other theories focused on injuries sustained during birth.[50]


With the discovery of karyotype techniques in the 1950s, it became possible to identify abnormalities of chromosomal number or shape. In 1959, Professor Jérôme Lejeune discovered that Down syndrome resulted from an extra chromosome.[51] The extra chromosome was subsequently labeled as the 21st, and the condition as trisomy 21. Karyogram of human male using Giemsa staining. ... Jérôme Jean Louis Marie Lejeune (Montrouge, France; June 26, 1926-April 3, 1994) was a French Catholic anti-abortion paediatrician and geneticist, best known for his discovery of the link of diseases to chromosomal defects. ... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... Chromosome 21 is one of the 23 pairs of chromosomes in humans. ...


In 1961, nineteen geneticists wrote to the editor of The Lancet suggesting that Mongolian idiocy had "misleading connotations," had become "an embarrassing term," and should be changed.[52] The Lancet supported Down's Syndrome. The World Health Organization (WHO) officially dropped references to mongolism in 1965 after a request by the Mongolian delegate.[53] However, almost 40 years later, the term ‘mongolism’ still appears in leading medical texts such as Review of Medical Physiology, 22nd Edition, 2005, by Professor William Ganong and General and Systematic Pathology, 4th Edition, 2004, edited by Professor Sir James Underwood. The Lancet is one of the oldest and most respected peer-reviewed medical journals in the world, published weekly by Elsevier, part of Reed Elsevier. ... WHO redirects here. ... William Francis Ganong (b. ... Image:Sir Professor James Underwood. ...


In 1975, the United States National Institutes of Health convened a conference to standardize the nomenclature of malformations. They recommended eliminating the possessive form: "The possessive use of an eponym should be discontinued, since the author neither had nor owned the disorder."[54] Although both the possessive and non-possessive forms are used in the general population, Down syndrome is the accepted term among professionals in the USA, Canada and other countries; Down's syndrome is still used in the United Kingdom and other areas.[55] National Institutes of Health Building 50 at NIH Clinical Center - Building 10 The National Institutes of Health (NIH) is an agency of the United States Department of Health and Human Services and is the primary agency of the United States government responsible for biomedical research. ...


Notable individuals

Notable people with Down syndrome include:

The Down Syndrome Association of Los Angeles maintains a list of individuals with Down syndrome in roles in TV and movies.[72] Christopher Joseph Burke (born August 26, 1963, in Point Lookout, New York) is an American actor who played Charles Corky Thacher on the television series Life Goes On. ... This article or section does not cite its references or sources. ... Pascal Duquenne, is a Belgian actor, ( 8 August 1970, Vilvoorde, Flanders, Belgium). ... Daniel Auteuil (born January 24, 1950) is a French actor. ... The Eighth Day may refer to: Le Huitième Jour, a 1996 film by Jaco Van Dormael Gattaca, a 1997 film by Andrew Niccol, which had the working title The Eighth Day This is a disambiguation page: a list of articles associated with the same title. ... Anne de Gaulle (January 1, 1928 - February 6, 1948) was the daughter of General Charles de Gaulle and his wife, Yvonne. ... For other uses, see Charles de Gaulle (disambiguation). ... Duo: The True Story of a Gifted Child with Down Syndrome is a 1996 independent film starring Stephane Ginnsz. ... Duo is an independent film starring Stephane Ginnsz. ... Notes on a Scandal is a 2006 Academy Award-nominated film adapted from the 2003 novel Notes on a Scandal by Zoë Heller. ... Joey Moss enthusiastically singing the Canadian Anthem Joey Moss is the equipment manager for the Edmonton Oilers. ... The Edmonton Oilers are a professional ice hockey team based in Edmonton, Alberta, Canada. ... José Alberto Pujols (Pronounced POO-hoals, IPA: /Ë¡puËŒhoÊŠlz/) (born January 16, 1980 in Santo Domingo, Dominican Republic) is a Major League Baseball player with the St. ... Major league affiliations National League (1892–present) Central Division (1994–present) Current uniform Retired Numbers 1, 2, 6, 9, 14, 17, 20, 42, 42, 45, 85 Name St. ... “Pujols” redirects here. ... Paula Sage is a Scottish film actress and Special Olympics athlete (netball)[1]. Her role in the 2003 film, Afterlife [2] brought her a BAFTA Scotland award for best first time performance and Best Actress in the Bratislava International Film Festival, 2004 [3]. Afterlife won the Audience Award at The... The crowd at the 2003 Special Olympics World Summer Games Opening Ceremonies in Croke Park, Dublin, Ireland. ... The Edinburgh International Film Festival is part of the Edinburgh Festival, which takes place every August, in Edinburgh. ... Fiction River City (television series) is a soap opera produced by BBC Scotland River City is a fictional city set in Iowa in The Music Man. ... Judith Scott (May 1, 1943 – March 15, 2005) was an outsider artist. ... The University of Alabama (also known as Alabama, UA or colloquially as Bama) is a public coeducational university located in Tuscaloosa, Alabama, USA. Founded in 1831, UA is the flagship school of the University of Alabama System. ... Gene Stallings (born March 2, 1935) is a former college and professional football coach // Gene Stallings of Powderly, Texas, received his Bachelor of Science degree from Texas A&M University in 1957. ... Motto: En Unión y Libertad (English: In Union and Liberty) Anthem: Himno Nacional Argentino Capital Buenos Aires 34°20′ S 58°30′ W Largest city Buenos Aires Official languages Spanish Government President Democratic Republic Néstor Kirchner Independence - May Revolution - Declared - Recognised from Spain May 25, 1810... It has been suggested that this article or section be merged into Darwin — Wedgwood family. ... For other people of the same surname, and places and things named after Charles Darwin, see Darwin. ...


Portrayal in fiction

Bret Lott is a United States author. ... Jewel is a novel by Bret Lott, and was chosen as an Oprahs Book Club selection. ... Bernice Rubens (July 26, 1928 - October 13, 2004) was a Welsh novelist and screenwriter. ... A Solitary Grief (1991) is a novel by Bernice Rubens about a Harley Street doctor who cannot cope with his own life. ... Quantum Leap is a science fiction television series that ran for 97 episodes from March 1989 to May 1993 on NBC. It follows the adventures of Dr. Samuel Beckett (played by Scott Bakula), a brilliant scientist who after researching time-travel, and doing experiments in something he calls The Imaging... Emily Kingsley is a writer who joined the Sesame Street team in 1970 and has been writing for the show ever since. ... Welcome to Holland is an essay, written in 1987 by Emily Perl Kingsley, about having a child with Down Syndrome, though it is applicable to many other birth defects, and is given by many hospitals and child-care professionals to new parents of special-needs children. ... The Kingdom (Danish title: Riget) is an eight-episode Danish television mini-series, created by Lars von Trier in 1994. ... Stephen Kings Kingdom Hospital was a thirteen-episode miniseries based on Lars von Triers Riget, which was developed by horror writer Stephen King in 2004 for American television. ... For other persons named Stephen King, see Stephen King (disambiguation). ... Dreamcatcher (2001) is a novel written by Stephen King. ... Dean Ray Koontz (born July 9, 1945 in Everett, Pennsylvania) is an American writer. ... The Bad Place is a novel written by the best-selling author Dean Koontz, released in 1990. ... Jeffrey Kent Eugenides (b. ... The Virgin Suicides is the 1993 debut novel by American writer Jeffrey Eugenides. ... Petal Mitchell is a fictional character in the popular BBC soap opera EastEnders. ... EastEnders is a popular BBC television soap opera, first broadcast in the United Kingdom on BBC1 on 19 February 1985[4] and continuing to date. ... Kim Edwards is an American author and educator. ... The Memory Keepers Daughter is a New York Times Bestseller[1] by American author Kim Edwards. ... Jaco Van Dormael (born 1957, Ixelles, Brussels) is a Belgian film director and screenwriter. ... Le Huitième Jour (The Eighth Day) is a 1996 film that tells the story of the friendship that develops between two men who meet by chance. ... Mark Haddon is a novelist and poet, best known for The Curious Incident of the Dog in the Night-time. ...

References

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  5. ^ Strom, C. FAQ from Mosaic Down Syndrome Society. Retrieved on 2006-06-03.
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  8. ^ For a description of human karyotype see Mittleman, A. (editor) (1995). An International System for Human Cytogenetic Nomeclature. Retrieved on 2006-06-04.
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  10. ^ Mosaic Down syndrome on the Web
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  13. ^ Center for Disease Control (6 January 2006). "Improved National Prevalence Estimates for 18 Selected Major Birth Defects, United States, 1999–2001". Morbidity and Mortality Weekly Report 54 (51 & 52): 1301–1305. 
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  18. ^ a b Some practices report adding Nasal Bone measurements and increasing the detection rate to 95% with a 2% False Positive Rate.
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  21. ^ Assume the false positive rate is 2% (at the low end), the incidence of Down syndrome is 1/500 (on the high side) with 95% detection, and there is no ascertainment bias. Out of 100,000 screens, 200 will have Down syndrome, and the screen will detect 190 of them. From the 99,800 normal pregnancies, 1996 will be given a positive result. So, among the 2,186 positive test results, 91% will be false positives and 9% will be true positives.
  22. ^ Eddleman, Keith A., et al (2006). "Pregnancy loss rates after midtrimester amniocentesis". Obstet Gynecol 108 (5): 1067–1072. Retrieved on 2006-12-09.  PMID 17077226
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  33. ^ There are many such programs. One is described by Action Alliance for Children, K. Flores. Special needs, "mainstream" classroom. Retrieved on 2006-05-13. Also, see Flores, K.. Special needs, "mainstream" classroom. Retrieved on 2006-05-13.
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  42. ^ Mendelian Inheritance in Man (OMIM) 164740, located at 21 q22.3. Retrieved on 2006-12-05.
  43. ^ OMIM, NIH. V-ETS Avian Erythroblastosis virus E26 Oncogene Homolog 2. Retrieved on 2006-06-29.
  44. ^ Inclusion. National Down Syndrome Society. Retrieved on 2006-05-21. 
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  48. ^ Down, J.L.H. (1866). "Observations on an ethnic classification of idiots". Clinical Lecture Reports, London Hospital 3: 259–262. Retrieved on 2006-07-14.  For a history of the disorder, see OC Ward (1998). John Langdon Down, 1828–1896. Royal Society of Medicine Press. ISBN 1-85315-374-5.  or Conor, Ward. John Langdon Down and Down's syndrome (1828–1896). Retrieved on 2006-06-02.
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  51. ^ Jérôme Lejeune Foundation. Retrieved on 2006-06-02.
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Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 153rd day of the year (154th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 172nd day of the year (173rd in leap years) in the Gregorian calendar. ... is the 6th day of the year in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 111th day of the year (112th in leap years) in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 272nd day of the year (273rd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 250th day of the year (251st in leap years) in the Gregorian calendar. ... Ascertainment bias describes the incorrect results of a study due to the way in which the data were collected. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 343rd day of the year (344th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 184th day of the year (185th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 184th day of the year (185th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 132nd day of the year (133rd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 153rd day of the year (154th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 184th day of the year (185th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 153rd day of the year (154th in leap years) in the Gregorian calendar. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 132nd day of the year (133rd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 163rd day of the year (164th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 179th day of the year (180th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 133rd day of the year (134th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 133rd day of the year (134th in leap years) in the Gregorian calendar. ... is the 82nd day of the year (83rd in leap years) in the Gregorian calendar. ... Also see: 2002 (number). ... is the 81st day of the year (82nd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 287th day of the year (288th in leap years) in the Gregorian calendar. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... Chromosome 21 is one of the 23 pairs of chromosomes in humans. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 339th day of the year (340th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 187th day of the year (188th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 192nd day of the year (193rd in leap years) in the Gregorian calendar. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... Chromosome 21 is one of the 23 pairs of chromosomes in humans. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 339th day of the year (340th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 180th day of the year (181st in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 141st day of the year (142nd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 153rd day of the year (154th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 195th day of the year (196th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 153rd day of the year (154th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 153rd day of the year (154th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 153rd day of the year (154th in leap years) in the Gregorian calendar. ... The Lancet is one of the oldest and most respected peer-reviewed medical journals in the world, published weekly by Elsevier, part of Reed Elsevier. ... is the 79th day of the year (80th in leap years) in the Gregorian calendar. ... Year 1974 (MCMLXXIV) was a common year starting on Tuesday (link will display full calendar) of the 1974 Gregorian calendar. ... The Lancet is one of the oldest and most respected peer-reviewed medical journals in the world, published weekly by Elsevier, part of Reed Elsevier. ... is the 41st day of the year in the Gregorian calendar. ... is the 42nd day of the year in the Gregorian calendar. ... Year 1975 (MCMLXXV) was a common year starting on Wednesday (link will display full calendar) of the Gregorian calendar. ... The Lancet is one of the oldest and most respected peer-reviewed medical journals in the world, published weekly by Elsevier, part of Reed Elsevier. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 132nd day of the year (133rd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 342nd day of the year (343rd in leap years) in the Gregorian calendar. ... The Internet Movie Database (IMDb) is an online database of information about movies, actors, television shows, production crew personnel, and video games. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 52nd day of the year in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 342nd day of the year (343rd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 342nd day of the year (343rd in leap years) in the Gregorian calendar. ... Year 2003 (MMIII) was a common year starting on Wednesday of the Gregorian calendar. ... is the 59th day of the year in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 342nd day of the year (343rd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 342nd day of the year (343rd in leap years) in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 309th day of the year (310th in leap years) in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 111th day of the year (112th in leap years) in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 309th day of the year (310th in leap years) in the Gregorian calendar. ... The following is a list of past characters in the BBC Scotland soap opera River City. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 219th day of the year (220th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 342nd day of the year (343rd in leap years) in the Gregorian calendar. ... is the 250th day of the year (251st in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 339th day of the year (340th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... Year 2003 (MMIII) was a common year starting on Wednesday of the Gregorian calendar. ... is the 71st day of the year (72nd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 342nd day of the year (343rd in leap years) in the Gregorian calendar. ... is the 335th day of the year (336th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ...

Sources

  • Arron, Joseph R., et al. (2006). NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature, 441: 595-599.
  • Epstein, Charles J. (2006). Critical Genes in Critical Region. Nature, 441: 582-583.
  • Ganong, W.J. (2005). Review of Medical Physiology. New York: Mc-Graw Hill. 
  • Nelson, David L., & Gibbs, Richard H. (2004). The Critical Region in Trisomy-21. Science, 306: 619-621.
  • Olson, L.E., Richtsmeier J.T., & Reeves R.H. (2004). A Chromosome-21 Critical Region Does Not Cause Specific Down Syndrome Phenotypes. Science, 306: 687-690.
  • Reeves, Roger H., et al. (2000). The DNA Sequence of Human Chromosome 21. Nature, 405: 311-319.
  • Underwood, J.C.E. (2004). General and Systematic Pathology. Edinburgh: Churchill Livingstone. 

Bibliography

  • Beck, M.N. (1999). Expecting Adam. New York: Berkley Books. 
  • Buckley, S. (2000). Living with Down Syndrome. Portsmouth, UK: The Down Syndrome Educational Trust. ISBN 1903806011. 
  • Down Syndrome Research Foundation (2005). Bright Beginnings: A Guide for New Parents. Buckinghamshire, UK: Down Syndrome Research Foundation. 
  • Dykens EM (2007). "Psychiatric and behavioral disorders in persons with Down syndrome". Ment Retard Dev Disabil Res Rev 13 (3): 272–8. doi:10.1002/mrdd.20159. PMID 17910080. 
  • Hassold, T.J., D. Patterson, eds. (1999). Down Syndrome: A Promising Future, Together. New York: Wiley Liss.
  • Kingsley, J.; M. Levitz (1994). Count Us In: Growing up with Down Syndrome. San Diego: Harcourt Brace. 
  • Pueschel, S.M., M. Sustrova, eds. (1997). Adolescents with Down Syndrome: Toward a More Fulfilling Life. Baltimore, MD: Paul H. Brookes.
  • Selikowitz, M. (1997). Down Syndrome: The Facts, 2nd edition, Oxford, UK: Oxford University Press. 
  • Van Dyke, D.C.; P.J. Mattheis, S. Schoon Eberly, J. Williams (1995). Medical and Surgical Care for Children with Down Syndrome. Bethesda, MD: Woodbine House. 
  • Zuckoff, M. (2002). Choosing Naia: A Family's Journey. New York: Beacon Press. 

A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ...

External links

Wikimedia Commons has media related to:

For comprehensive lists of Down syndrome links see Image File history File links Commons-logo. ...

  • Directory of Down Syndrome Internet Sites (US based, but contains international links)
  • UK resources for Down's syndrome

Societies and associations

  • Down Syndrome International
  • The Down Syndrome Educational Trust

By country

  • Canadian Down Syndrome Society (Canada)
  • Down Syndrome Research Foundation (Canada)
  • Down's Syndrome Federation of India (INDIA)
  • Down's Syndrome Scotland (Scotland)
  • Down's Syndrome Association UK (Not including Scotland)
  • National Down Syndrome Society (USA)
  • National Down Syndrome Congress (USA)
  • International Mosaic Down Syndrome Association (USA)
  • Down's Heart Group (heart conditions related to Down's Syndrome)
  • Down Syndrome Association (Singapore)

Health & care information

  • Dr. Len Leshin in Texas, USA
  • Down's Heart Group (heart conditions related to Down's Syndrome)
  • Riverbend Down Syndrome Parent Support Group - extensive information
v • d • e
Pathology: chromosome abnormalities (Q90-Q99, 758)
Autosomal trisomies Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22)
Autosomal monosomies/deletions Wolf-Hirschhorn syndrome (4), Cri du chat (5), Angelman syndrome/Prader-Willi syndrome (15), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22)
X/Y linked Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY
Translocations Philadelphia chromosome, Burkitt's lymphoma

A renal cell carcinoma (chromophobe type) viewed on a hematoxylin & eosin stained slide Pathologist redirects here. ... A chromosome abnormality reflects an abnormality of chromosome number or structure. ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... Trisomy 18 or Edwards Syndrome (named after John H. Edwards, who first described the syndrome in 1960) is a genetic disorder. ... Patau syndrome, also known as trisomy 13, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a non-disjunction of chromosomes during meiosis. ... Trisomy 9 is a chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. ... Warkany syndrome 2, also known as trisomy 8, is a chromosomal disease that has severe effects on the unborne child, as complete trisomy 8 is a frequent cause of early abortion. ... A coloboma (also part of the rare Cat Eye syndrome) is the term used to describe a hole in one of the structures of the eye, such as the lens, eyelid, iris, retina, choroid or optic disc. ... Deletion on a chromosome In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is missing. ... Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p- syndrome was first described in 1961 by U. Wolf and K. Hirschhorn and their co-workers. ... Cri du chat syndrome (French for Cry or call of the cat referring to the specific cry of the child), also called deletion 5p syndrome, 5p minus or Le Jeune’s syndrome, is a rare genetic disorder due to a missing portion of chromosome 5. ... Angelman Syndrome (AS) is a rare neuro-genetic disorder named after a British paediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. ... Prader-Willi syndrome (abbreviated PWS) is a genetic disorder, in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. ... Miller-Dieker Syndrome is a disease characterised by a developmental defect of the brain, caused by incomplete neuronal migration. ... Smith-Magenis Syndrome (SMS) is a chromosomal disorder characterized by a recognizable pattern of physical, behavioral, and developmental features. ... 22q11. ... ‹ The template below (Expand) is being considered for deletion. ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ... Turner syndrome or Ullrich-Turner syndrome encompasses several chromosomal abnormalities, of which monosomy X is the most common. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... Not to be confused with XXX syndrome. ... Not to be confused with XXY syndrome. ... Chromosomal translocation of the 4th and 20th chromosome. ... Philadelphia chromosome or Philadelphia translocation is a specific genetic, chromosomal abnormality that is associated with chronic myelogenous leukemia (CML) and involves an exchange of material between chromosomes 9 and 22. ... Burkitts lymphoma (or Burkitts tumor, or Malignant lymphoma, Burkitts type) is a cancer of the lymphatic system (in particular, B lymphocytes). ...


  Results from FactBites:
 
Down syndrome - Wikipedia, the free encyclopedia (3754 words)
This is the cause of 1–2% of the observed Down syndromes.
It is the cause of 2-3% of the observed Down syndromes.
Ultrasound of embryo with Down syndrome and megacystis.
HON Mother & Child Glossary, Down Syndrome (1270 words)
Down syndrome or trisomy 21 is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems and occurs in one out of 800 live births, in all races and economic groups.
Down syndrome is a chromosomal disorder caused by an error in cell division, when a fertilised ovum, which will develop into the foetus, contains extra material from chromosome number 21 (cf.
Most of the time, the occurrence of Down syndrome is due to a random event that occurred during formation of the reproductive cells, the ovum or sperm.
  More results at FactBites »


 

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