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Chromosome 22, Microdeletion 22 Q1122 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 commonly known as VCFS 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 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
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