| Literature DB >> 10464633 |
D M McDonald-McGinn1, D LaRossa, E Goldmuntz, K Sullivan, P Eicher, M Gerdes, E Moss, P Wang, C Solot, P Schultz, D Lynch, P Bingham, G Keenan, S Weinzimer, J E Ming, D Driscoll, B J Clark, R Markowitz, A Cohen, T Moshang, P Pasquariello, P Randall, B S Emanuel, E H Zackai.
Abstract
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, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.Entities:
Mesh：
Year: 1997 PMID： 10464633 DOI： 10.1089/gte.1997.1.99
Source DB: PubMed Journal: Genet Test ISSN： 1090-6576