Article
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1999
McDonald-McGinn D M, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming J E, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel B S, Zackai E H
Abstract excerpt
A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We...
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