Article
The 22q11.2 deletion syndrome.
Advances in pediatrics - 1 Jan 2001
Emanuel B S, McDonald-McGinn D, Saitta S C, Zackai E H
Abstract excerpt
Estimates suggest that the 22q11.2 deletion occurs in approximately 1 in 4000 live births, making this disorder a significant health concern in the general population. The 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome, suggesting that they are phenotypic variants of the same disorder. The findings...
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