Chromosome 22, microdeletion 22 q11

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

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