Article
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
Genetic testing - 1 Jan 1997
McDonald-McGinn D M, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming J E, Driscoll D, Clark B J, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, 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 syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented,...
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