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

Karoline S. Puder, Richard A. Humes, Robin L. Gold, Erawati V. Bawle, Gregory L. Goyert

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)239-241
Number of pages3
JournalAmerican Journal of Obstetrics and Gynecology
Volume173
Issue number1
DOIs
StatePublished - 1995

Keywords

  • DiGeorge anomaly
  • congenital heart disease
  • contiguous gene deletion syndrome
  • interrupted aortic arch
  • segmental aneusomy

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