Chromosome 22, microdeletion 22 q11
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22 q11 microdeletion syndrome is a birth defect caused by a genetic abnormality that occurs in approximately one in 700 births.
Also variously nicknamed, or labelled according to symptomatic manifestations:
- Catch 22
- Conotruncal face anomaly
- Craniofacial syndrome
- DiGeorge syndrome
- Shprintzen syndrome
- Unusual face syndrome
- Velocardio-facial syndrome (VCFS) (most common)
CLINICAL FEATURES:
This is a partial list among a great variety of problems associated with VCFS. None of these features occur in 100% of cases.
1. Cardiac Manifestations
- Tetralogy of Fallot
- right-sided aortic arch
- persistent truncus arteriosus
- aberrant left subclavian artery
- right infundibular stenosis
- ventricular septal defect
2. Facial Manifestations
- prominent nose
- down-slanting, almond shaped eyes
- low-set, small ears with narrow ear canals
- high-arched palate
- bifid uvula
- fishmouth deformity
3. Endocrine Manifestations
- Hypoparathyroidism sometimes producing seizures
- Neonatal hypocalcemia sometimes accompanied by tetany and cataracts
4. Immune Manifestations
- Neonatal or acquired abnormal immunity
- If T cell function is compromised, abnormal incidence of fungal or viral infections
5. Other Manifestations
- abdominal malformations
- kidney deformity
- long, tapering fingers
- nasal voice
- scoliosis
- learning disabilities
- schizophrenia or comparable difficulties may develop at the onset of puberty.
- hearing impairment
See also: Reelin hypothesis of the development of Schizophrenia (speculative)
External links
- VCFS Education Foundation (http://www.vcfs.net/22q11/factsht.htm)fr:Microdélétion 22q11