PRENATAL DIAGNOSIS OF THE 22q11 DELETION SYNDROME
1997; Wiley; Volume: 17; Issue: 4 Linguagem: Inglês
10.1002/(sici)1097-0223(199704)17
ISSN1097-0223
AutoresAlexander Davidson, Meena Khandelwal, Hope H. Punnett,
Tópico(s)Coronary Artery Anomalies
ResumoA 27 weeks gestation fetus, evaluated because of polyhydramnios, was found by echocardiography to have an interrupted aortic arch type B. Because of the known association between this malformation and DiGeorge syndrome, an amniocentesis was performed. Fluorescence in situ hybridization revealed a 22q11 deletion. This is, to our knowledge, the first report of prenatal detection of a fetus with 22q11 deletion in the absence of a family history.
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