Article
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
McDonald-McGinn D M, Tonnesen M K, Laufer-Cahana A, Finucane B, Driscoll D A, Emanuel B S, Zackai E H
Abstract excerpt
PURPOSE: The chromosome 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome and in some patients with the autosomal dominant Opitz G/BBB syndrome and Cayler cardiofacial syndrome. In addition, 22q11.2 deletion studies are becoming part of a standardized diagnostic workup for some isolated defects such as...
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