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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 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

  • 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



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