THE GENETIC IMPLICATION FOR PRECEDING GENERATIONS OF THE PRENATAL-DIAGNOSIS OF INTERRUPTED AORTIC-ARCH IN ASSOCIATION WITH UNSUSPECTED DIGEORGE ANOMALY

Authors
PUDER KS HUMES RA GOLD RL BAWLE EV GOYERT GL
Citation
Ks. Puder et al., THE GENETIC IMPLICATION FOR PRECEDING GENERATIONS OF THE PRENATAL-DIAGNOSIS OF INTERRUPTED AORTIC-ARCH IN ASSOCIATION WITH UNSUSPECTED DIGEORGE ANOMALY, American journal of obstetrics and gynecology, 173(1), 1995, pp. 239-241
Citations number
2
Categorie Soggetti
Obsetric & Gynecology
Journal title
American journal of obstetrics and gynecology → ACNP
ISSN journal
00029378
Volume
173
Issue
1
Year of publication
1995
Pages
239 - 241
Database
ISI
SICI code
0002-9378(1995)173:1<239:TGIFPG>2.0.ZU;2-9
Abstract
We present a case of prenatally diagnosed interrupted aortic arch with a ventricular septal defect in the presence of maternal congenital he art disease, which led to the detection of segmental monosomy of chrom osome 22q11.2 in both patients. The implications of detecting a microd eletion and the importance of a multidisciplinary approach to prenatal diagnosis and counseling are discussed.