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Am J Obstet Gynecol. 1995 Jul;173(1):239-41.

The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly.

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  • 1Department of Obstetrics and Gynecology, Children's Hospital of Michigan, Hutzel Hospital, Detroit, USA.


We present a case of prenatally diagnosed interrupted aortic arch with a ventricular septal defect in the presence of maternal congenital heart disease, which led to the detection of segmental monosomy of chromosome 22q11.2 in both patients. The implications of detecting a microdeletion and the importance of a multidisciplinary approach to prenatal diagnosis and counseling are discussed.

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