D. M. McDonald-McGinn, D. A. Driscoll, B. S. Emanuel, E. Goldmuntz, B. J. Clark III, C. Solot, M. Cohen, P. Schultz, D. LaRossa, P. Randall, E. H. Zackai
ABSTRACT. Objective. Conotruncal cardiac anomalies frequently occur in patients with DiGeorge or velocardiofacial syndrome. Additionally, these patients may have overt or submucousal cleft palate, as well as velopharyngeal incompetence (VPI). Previous studies have demonstrated that the majority of these patients have a submicroscopic deletion of chromosome 22q11.2. We hypothesized that a subpopulation of newborns and children with congenital heart defects caused by a 22q11.2 deletion are at a high risk for ha…
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