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. 1993 Oct;30(10):852–856. doi: 10.1136/jmg.30.10.852

DiGeorge syndrome: part of CATCH 22.

D I Wilson 1, J Burn 1, P Scambler 1, J Goodship 1
PMCID: PMC1016569  PMID: 8230162

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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