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Microdeletions of 22q11 are a well recognised cause of DiGeorge Syndrome, Velocardiofacial syndrome and familial conotruncal heart disease. We sought to clarify the importance of 22q11 microdeletions and other identifiable cytogenetic abnormalities in the etiology of conotruncal malformations and to establish clinical-genetic correlations. From 6/92-8/94 we prospectively studied 39 consecutive infants presenting to a regional pediatric cardiac centre with a conotruncal malformation. Diagnoses were: tetralogy (21), pulmonary atresia NSD (8), DORV (3). type B IAA (3), truncus (2). absent pulmonary valve syndrome (1) and isolated right aortic arch (1). 17 (44%) were considered dysmorphic by a clinical geneticist. In 5 cases the dysmorphic features were major. but no firm diagnosis was established on clinical grounds. One of these patients was shown to have an unbalanced translocation involving chromosomes …