DiGeorge syndrome
DiGeorge syndrome, or 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small segment of chromosome 22.[7] The symptoms are caused by the lack of those genes.
| DiGeorge syndrome | |
|---|---|
| Other names | DiGeorge anomaly,[1][2] velocardiofacial syndrome (VCFS),[3] Shprintzen syndrome,[4] conotruncal anomaly face syndrome (CTAF),[5] Takao syndrome,[6] Sedlackova syndrome,[7] Cayler cardiofacial syndrome,[7] CATCH22,[7] 22q11.2 deletion syndrome[7] |
 | |
| A child with DiGeorge syndrome | |
| Symptoms | Variable; commonly congenital heart problems, specific facial features, cleft palate[7] |
| Complications | Kidney problems, hearing loss, autoimmune diseases[7] |
| Causes | Genetic (typically new mutation)[7] |
| Diagnostic method | Based on symptoms and genetic testing[5] |
| Differential diagnosis | Smith-Lemli-Opitz syndrome, Alagille syndrome, VACTERL, Oculo-auriculo-vertebral spectrum[5] |
| Treatment | Multidisciplinary[5] |
| Prognosis | Depends on the specific symptoms[3] |
| Frequency | 1 in 4,000[7] |
Symptoms
The symptoms often include congenital heart problems, facial features, infections, developmental delays, learning difficulties and cleft palate.[7] Other conditions include but not limited to kidney problems, hearing loss and autoimmune diseases, such as rheumatoid arthritis or Graves disease.[7]
DiGeorge syndrome is due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2.[3] About 90% of cases occur due to a new mutation during early development, while 10% are inherited from a person's parents.[7]
Genetics
The condition is autosomal dominant: only one affected chromosome is needed for the condition to occur.[7] Diagnosis is suspected based on the symptoms and confirmed by genetic testing.[5]
Although there is no cure, treatment can improve symptoms.[3] This often includes efforts to improve the function of the many organ systems involved.[8] Long-term outcomes depend on the symptoms present and the severity of the heart and immune system problems.[3] With treatment, life expectancy may be normal.[9]
Prevalence
DiGeorge syndrome occurs in about 1 in 4,000 people.[7] The syndrome was first described in 1968 by American physician Angelo DiGeorge.[10][11] In late 1981, the underlying genetics were determined.[11]
DiGeorge Syndrome Media
DiGeorge syndrome is inherited in an autosomal dominant pattern.
Result of FISH analysis using LSI probe (TUPLE 1) from DiGeorge/velocardiofacial syndrome critical region. TUPLE 1 (HIRA) probe was labeled in Spectrum Orange and Arylsulfatase A (ARSA) in Spectrum Green as control. Absence of the orange signal indicates deletion of the TUPLE 1 locus at 22q11.2.
Brain computer tomography cuts of the person, demonstrating basal ganglia and periventricular calcification
References
- ↑ Rapini, Ronald P.. Dermatology: 2-Volume Set (2007). St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ↑ James, William D.. Andrews' Diseases of the Skin: clinical Dermatology (2006)Saunders Elsevier. ISBN 0-7216-2921-0.
- ↑ 3.0 3.1 3.2 3.3 3.4 22q11.2 deletion syndrome (in en). Genetic and Rare Diseases Information Center (GARD). Retrieved 15 May 2017.
- ↑ Shprintzen, RJ. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.. The Cleft Palate Journal 15 (1) (January 1978). p. 56–62.
- ↑ 5.0 5.1 5.2 5.3 5.4 Chromosome 22q11.2 Deletion Syndrome - NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders) (2017). Retrieved 10 July 2017.
- ↑ Burn, J. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.. Journal of Medical Genetics 30 (10) (October 1993). p. 822–4. doi:10.1136/jmg.30.10.822.
- ↑ 7.00 7.01 7.02 7.03 7.04 7.05 7.06 7.07 7.08 7.09 7.10 7.11 7.12 7.13 22q11.2 deletion syndrome (in en). Genetics Home Reference (July 2013). Retrieved 15 May 2017.
- ↑ Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370 (9596) (October 2007). p. 1443–52. doi:10.1016/S0140-6736(07)61601-8.
- ↑ Goldman, Lee. Goldman-Cecil Medicine E-Book (in en) (2015)Elsevier Health Sciences. p. 702. ISBN 9780323322850.
- ↑ DiGeorge, A. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism.. March of Dimes-Birth Defects Foundation (1968). p. 116–21.
- ↑ 11.0 11.1 Restivo, Angelo. 22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system.. Journal of Cardiovascular Medicine 7 (2) (February 2006). p. 77–85. doi:10.2459/01.JCM.0000203848.90267.3e.
- GeneReviews (2005)University of Washington, Seattle.
- Firth HV. GeneReviews (2009)University of Washington, Seattle.
Other websites
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| External resources |