|
22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. It has a birth incidence estimated at 1:4000. The International Statistical Classification of Diseases and Related Health Problems (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 codes are used with International Statistical Classification of Diseases and Related Health Problems. ...
// C00-D48 - Neoplasms (C00-C14) Malignant neoplasms, lip, oral cavity and pharynx (C00) Malignant neoplasm of lip (C01) Malignant neoplasm of base of tongue (C02) Malignant neoplasm of other and unspecified parts of tongue (C03) Malignant neoplasm of gum (C04) Malignant neoplasm of floor of mouth (C05) Malignant neoplasm of...
The International Statistical Classification of Diseases and Related Health Problems (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. ...
eMedicine is an online clinical medical knowledge base that was founded in 1996. ...
Chromosome 22 is one of the 23 pairs of chromosomes in humans. ...
Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ...
The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms include heart defects that are often present from birth, an opening in the roof of the mouth (a cleft palate or other defect in the palate), learning disabilities, recurrent infections caused by problems with the immune system, and mild differences in facial features. Affected individuals may also have kidney abnormalities, low levels of calcium in the blood (which can result in seizures), significant feeding difficulties, autoimmune disorders such as rheumatoid arthritis, and an increased risk of developing mental illnesses such as schizophrenia and bipolar disorder. In the United States and Canada, the term learning disability is used to refer to psychological and neurological conditions that affect a persons communicative capacities and potential to be taught effectively. ...
An infection is the detrimental colonization of a host organism by a foreign species. ...
A scanning electron microscope image of a single human lymphocyte. ...
Autoimmune diseases arise from an overactive immune response of the body against substances and tissues normally present in the body. ...
Rheumatoid arthritis (RA) is traditionally considered a chronic, inflammatory autoimmune disorder that causes the immune system to attack the joints. ...
It has been suggested that Creativity and bipolar disorder be merged into this article or section. ...
Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors often refer to these as the CATCH 22 syndrome and includes velo-cardio-facial syndrome (also called Shprintzen's syndrome), DiGeorge syndrome, hearing loss with craniofacial syndromes and conotruncal anomaly face syndrome, thymic hypoplasia, cleft palate, psychiatric disorders, and hypocalcaemia.
In addition, some children with the 22q11.2 deletion were diagnosed with Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.
Symptoms Individuals with a 22q11 deletion can suffer from a range of over 200 possible symptoms, ranging from the mild to the very serious. Possible symptoms are: Thymus, parathyroid glands and heart derive from the same primitive embryonic structure and that is why these three organs are dysfunctioned together in this disease. Affected patients (usually children) are prone to yeast infections. Cross-section of a healthy heart. ...
The tetralogy of Fallot is a congenital heart defect which classically has four anatomical components. ...
Interrupted aortic arch is a very rare heart defect in which the aorta is not completely developed. ...
A ventricular septal defect (or VSD) is a defect in the ventricular septum (the wall dividing the left and right ventricles of the heart). ...
Persistent truncus arteriosus (or Truncus arteriosus) is a rare form of congenital heart disease that presents at birth. ...
Palatal consonants are consonants articulated with the middle or back part of the tongue raised against the hard palate (the middle part of the roof of the mouth). ...
It has been suggested that Caucasoid race be merged into this article or section. ...
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes (orbital hypertelorism), seen in a variety of syndromes, including DiGeorge syndrome and Loeys-Dietz syndrome. ...
The term learning disability is used to refer to socio-biological conditions that affect a persons communicative capacities and potential to learn. ...
In medicine, immune deficiency (or immunodeficiency) is a state where the immune system is incapable of defending the organism from infectious disease. ...
In medicine, hypocalcaemia is the presence of less than a total calcium of 2. ...
Kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ...
Hearing impairment is a a full or partial decrease in the ability to detect sounds. ...
En [ [ ciencia ] ] y [ [ ingeniería ] ], los conductores son los materiales de los cuales contenga las cargas movibles [ [ electricidad ] ]. Cuando una diferencia potencial eléctrica se impresiona a través de puntos separados en un conductor, las cargas móviles dentro del conductor se fuerzan para moverse, y una corriente el...
Sensorineural hearing loss is a type of hearing loss in which the root cause lies in the vestibulocochlear nerve (Cranial nerve VIII), the inner ear, or central processing centers of the brain. ...
Hearing loss with craniofacial syndromes is a common occurrence. ...
Growth hormone (GH or somatotropin) is a 191 amino acid, single chain polypeptide hormone which is synthesised, stored and secreted by the stomatotraph cells within the lateral wings of the anterior pituitary gland, which stimulates growth and cell reproduction in humans and other vertebrate animals. ...
Autoimmune diseases arise from an overactive immune response of the body against substances and tissues normally present in the body. ...
This article is about the medical condition. ...
In medicine, hypocalcaemia is the presence of less than a total calcium of 2. ...
Skeleton is also a winter sport: see skeleton (sport). ...
In human anatomy, the thymus is an organ located in the upper anterior portion of the chest cavity. ...
The four human parathyroid glands are adjacent to the thyroid. ...
The heart and lungs, from an older edition of Grays Anatomy. ...
Candidiasis, commonly called yeast infection or thrush, is a fungal infection of any of the Candida species, of which Candida albicans is probably the most common. ...
Cause The syndrome is caused by genetic deletions (loss of a small part of the genetic material) found on the long arm of the 22nd chromosome. Some patients with similar clinical features may have deletions on the short arm of chromosome 10.
DiGeorge syndrome causes migration defects of neural crest-derived tissues, particularly affecting development of the third and fourth Branchial pouch (pharyngeal pouches). The neural crest, a component of the ectoderm, is one of several ridgelike clusters of cells found on either side of the neural tube in vertebrate embryos. ...
Pharyngeal or branchial pouches form on the endodermal side between the branchial arches, and pharyngeal grooves (or clefts) form from the lateral ectodermal surface of the neck region to separate the arches. ...
Treatment Although genetic transplantation methods are currently being developed by researchers, there is yet no genetic treatment of this disease. Therefore, the treatment is symptomatic, that is calcium is administered, infections are treated with antibiotics, and these patients may occasionally undergo cardiac surgery for their heart abnormalities. General Name, Symbol, Number calcium, Ca, 20 Chemical series alkaline earth metals Group, Period, Block 2, 4, s Appearance silvery white Atomic mass 40. ...
Infection is also the title of an episode of the television series Babylon 5; see Infection (Babylon 5). ...
An antibiotic is a drug that kills or slows the growth of bacteria. ...
Cardiac surgery is surgery on the heart, typically to treat complications of ischemic heart disease (e. ...
Diagnosis/testing The 22q11.2 deletion syndrome is diagnosed in individuals with a submicroscopic deletion of chromosome 22 detected by fluorescence in situ hybridization (FISH) using DNA probes from the DiGeorge chromosomal region (DGCR). Such genetic testing is widely available for the clinical and prenatal testing of the 22q11.2 deletion syndrome. Fewer than 5% of individuals with clinical symptoms of the 22q11.2 deletion syndrome have normal routine cytogenetic studies and negative FISH testing. They may have variant deletions of DiGeorge syndrome that may be detectable on a research basis only. Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ...
Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ...
Prenatal diagnosis is the diagnosis of disease or condition in a fetus or embryo before it is born. ...
Genetics Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs (the building blocks of DNA) on one copy of chromosome 22 in each cell. This region contains about 30 genes, but many of these genes have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. This condition is often described as a contiguous gene deletion syndrome because a deletion in chromosome 22 leads to the loss of many genes. Image File history File links Autodominant2. ...
Image File history File links Autodominant2. ...
It has been suggested that this article or section be merged into Dominance relationship. ...
Base pairs, of a DNA molecule. ...
Chromosome 22 is one of the 23 pairs of chromosomes in humans. ...
Researchers have not yet identified all of the genes that contribute to the features of 22q11.2 deletion syndrome. They have determined that the loss of one particular gene on chromosome 22, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, and low calcium levels). A loss of this gene does not appear to cause learning disabilities, however. Additional genes in the deleted region are likely to contribute to the signs and symptoms of 22q11.2 deletion syndrome. TBX1 (T-box 1) is a human gene that provides instructions for making a protein called T-box 1. ...
The 22q11.2 deletion syndrome is inherited in an autosomal dominant manner. Almost all (about 93%) of cases have a de novo (new to the family) deletion of 22q11.2 but about 7% inherit the 22q11.2 deletion from a parent. Children of individuals with del 22q11.2 have a 50% chance of inheriting the 22q11.2 deletion. Prenatal testing, such as amniocentesis, is available for pregnancies determined to be at risk. Also pregnancies who have findings of congenital heart disease and/or cleft palate detected by ultrasound examination may be offered prenatal testing. Genetic counseling may be helpful for families who may have DiGeorge syndrome. It has been suggested that this article or section be merged into Dominance relationship. ...
Prenatal diagnosis is the diagnosis of disease or condition in a fetus or embryo before it is born. ...
Amniocentesis, or an Amniotic Fluid Test (AFT), is a medical procedure used for prenatal diagnosis, in which a small amount of amniotic fluid is extracted from the amnion around a developing fetus. ...
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...
Epidemiology 22q11.2 deletion syndrome affects an estimated 1 in 1800 live births. The condition may be more common, however, because some people with the deletion have few signs and symptoms and may not have been diagnosed.
Speech and Language Current research demonstrates there is a unique profile of speech and language impairments associated with 22q11.2 deletion syndrome. Children often perform lower on speech and language evaluations in comparison to their nonverbal IQ scores. Common problems include hypernasality, language delays, and speech sound errors. (D’Antonio et al., 2000, Scherer et al., 1999, Scherer et al., 2001)
Hypernasality occurs when air escapes through the nose during the production of oral speech sounds resulting in reduced intelligibility. This is a common characteristic in the speech and language profile because 69% of children have palatal abnormalities. If the structure of the soft palate velum is such that it does not stop the flow of air from going up to the nasal cavity, it will cause hypernasal speech. This phenomenon is referred as velopharyngeal inadequacy VPI. Hearing loss can also contribute to increased hypernasality because children with hearing impairments can have difficulty self monitoring their oral speech output. The treatment options available for VPI include prosthesis and surgery. (D’Antonio et al., 2000, Eliez et al. 2000, Robin et al., 2005, Scherer et al., 1999, Solot et al. 2000). Look up Transwiki:intelligibility in Wiktionary, the free dictionary. ...
Palatal consonants are consonants articulated with the middle or back part of the tongue raised against the hard palate (the middle part of the roof of the mouth). ...
This is a disambiguation page — a navigational aid which lists other pages that might otherwise share the same title. ...
The nasal cavity (or nasal fossa) is a large air-filled space above and behind the nose in the middle of the face. ...
There are very few or no other articles that link to this one. ...
Difficulties acquiring vocabulary and formulating spoken language (expressive language deficits) at the onset of language development are also part of the speech and language profile associated with the 22q11.2 deletion. Vocabulary acquisition is often severely delayed for preschool age children. In some recent studies, children had a severely limited vocabulary or were still nonverbal at 2-3 years of age. School age children do make progress with expressive language as they mature, but many continue to have delays and demonstrate difficulty when presented with language tasks such as verbally recalling narratives and producing longer and more complex sentences. Receptive language, which is the ability to comprehend, retain, or process spoken language, can also be impaired although not usually with the same severity as expressive language impairments. (Persson et al., 2006, Robin et al., 2005, Scherer et al., 1999, Solot et al., 2000). Expressive Language describes the ability to produce language in any of a number of different modalities such as speech, sign or writing. ...
Receptive Language refers to the specific ability to understand spoken (or signed) language. ...
Articulation errors are commonly present in children with 22q11.2 deletion syndrome. These errors include a limited phonemic (speech sound) inventory and the use of compensatory articulation strategies resulting in reduced intelligibility. The phonemic inventory typically produced consists of sounds made in the front or back of the vocal tract such as: /p/, /w/, /j/, /m/, /n/, and glottal stops. Mid vocal tract sounds are completely absent. Compensatory articulation errors made by this population of children include: glottal stops, nasal substitutions, pharyngeal fricatives, linguapalatal sibilants, reduced pressure on consonant sounds, or a combination of these symptoms. Of these errors, glottal stops have the highest frequency of occurrence. It is reasoned that a limited phonemic inventory and the use of compensatory articulation strategies is present due to the structural abnormalities of the palate. The speech impairments exhibited by this population are more severe during the younger ages and show a trend of gradual improvement as the child matures. (D’Antonio et al., 2000, Robin et al., 2005). Articulation may refer to several topics: In speech, linguistics, and communication: Topic-focus articulation Articulation score Place of articulation Manner of articulation In music: Musical articulations (staccato, legato, etc) In education: Articulation (education) In sociology: Articulation (sociology) This is a disambiguation page — a navigational aid which lists other pages...
In spoken language, a phoneme is a basic, theoretical unit of sound that can distinguish words (i. ...
The glottal stop or voiceless glottal plosive is a type of consonantal sound, used in many spoken languages. ...
See also Asymmetric crying facies is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. ...
References - Baldini A (2004). "DiGeorge syndrome: an update". Curr Opin Cardiol 19 (3): 201-4. PMID 15096950
- Maynard TM, Haskell GT, Lieberman JA, LaMantia AS (2002). "22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome". Int J Dev Neurosci 20 (3-5): 407-19. PMID 12175881
- McDermid HE, Morrow BE (2002). "Genomic disorders on 22q11". Am J Hum Genet 70 (5): 1077-88. PMID 11925570 Full text
- Perez E, Sullivan KE (2002). "Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)". Curr Opin Pediatr 14 (6): 678-83. PMID 12436034
- Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R (2003). "Role of TBX1 in human del22q11.2 syndrome". Lancet 362 (9393): 1366-73. PMID 14585638
- Yamagishi H, Srivastava D (2003). "Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome". Trends Mol Med 9 (9): 383-9. PMID 13129704
- D’Antonio, Linda L.; Scherer, Nancy; Miller, Laura L.; Kalbfleisch, John H.; Bartley, James A. 2000. “Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS and Children with Phenotyhpic Overlap without VFCS.” Cleft PalateCraniofacial Journal. September, 39:5, 455-67.
- Eliez, D.; Feinstein, C.; Palacio-Espasa, F; Spira, A.;Lacriox, M.;Pont, C.;Luthi, F.; Robert-Tissot, C.; Cramer, B.; Schorderet, D. F.; Antonarakis, S. E. 2000. “Young Children with Velo-Cardio-Facial syndrome (Catch-22). Psychological and language phenotypes.” European Child & Adolescent Psychiatry. 9: 109-1 14.
- Gerdes, Marsha; Solot, Cynthia; Wang, Paul; McDonald, McGinn, and Sackai, Elaine H. 2001. “Taking advantage of early diagnosis: Preschool children with the 22q 11.2 deletion.” Genetics in Medicine. January/February, 3:1, 40-4.
- Perez, Elena; Sulivan, Kathleen E. 2002. “Chromosome 22q1 1.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).” Current Options in Pediatrics. 14:678-83.
- Persson, Christina; Niklasson, Lena; Oskarsdottir, Solveig; Johansson, Susanne; Jonsson, Radi; Soderpalm, Ewa. 2006. “Language skills in 5-8-year-old children with 22q1 1 deletion syndrome.” International Journal of Language & Communication Disorders. 41:3, 3 13-33.
- Robin, Nathaniel H.; Shprintzen, Robert J.;2005. “Defining the Clinical Spectrum Spectrum of Deletion 22q11.2”. The Journal of Pediatrics. 147:90-96
- Scherer, Nancy J; D’Antonio, Linda L.; Kalbfleisch, John H. 1999. “Early Speech and Language Development in Children With Velocardiofacial Syndrome.” American Journal of Medical Genetics (Neuropsychiatric Genetics). 88: 714-23.
- Scherer, Nancy J.; D’Antonio, Linda L.; Rodgers, Jennifer R. 2001. “Profiles of communication disorder in children with velocardiofacial syndrome: Comparison to children with Down syndrome.” Genetics in Medicine. January/February, 3:1, 72-8.
- Shprintzen, Robert J.; Higgins, Anne Marie; Antshel, Kevin; Fremont, Wanda; Roizen, Nancy; Kates, Wendy. 2005. “Velo-cardio-facial syndrome.” Current Opinion in Pediatrics. 17:725-730.
- Solot, Cynthia B. and Knightly, Carol; Handler, Steven D.; Gerdes, Marsha; McDonald-McGinn, Donna M.; Moss, Edward; Wang, Paul; Cohen, Marilyn; Randall, Peter and Larossa, Don; Driscoll, Deborah A. 2000. “Communication Disorders in the 22Q11 .2 Microdeletion Syndrome.” Journal of Communication disorders. 33: 187-204.
This article incorporates public domain text from The U.S. National Library of Medicine
External links |
Feeds |
Contact