PT  - JOURNAL ARTICLE
AU  - D I Wilson
AU  - J Burn
AU  - P Scambler
AU  - J Goodship
TI  - DiGeorge syndrome: part of CATCH 22.
AID  - 10.1136/jmg.30.10.852
DP  - 1993 Oct 01
TA  - Journal of Medical Genetics
PG  - 852--856
VI  - 30
IP  - 10
4099  - http://jmg.bmj.com/content/30/10/852.short
4100  - http://jmg.bmj.com/content/30/10/852.full
SO  - J Med Genet1993 Oct 01; 30
AB  - DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.