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Chromosome 22, microdeletion 22 q11

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

See also: Reelin hypothesis of the development of Schizophrenia (speculative)

External links

VCFS Education Foundation