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Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect

✍ Scribed by Koenraad Devriendt; Dominique Van Schoubroeck; Benedicte Eyskens; Marc Gewillig; Kamiel Vandenberghe; Jean-Pierre Fryns

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 31 KB
Volume: 18
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199801)18:1<65::aid-pd207>3.0.co;2-4

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✦ Synopsis

We report the prenatal diagnosis at 30 weeks of gestation of a del(8)(p21.3-->pter) in a growth-retarded fetus with an unbalanced atrioventricular septal defect (AVSD) and a hypoplastic right ventricle. This observation further confirms the association of AVSD with terminal deletions of chromosome 8p. Terminal deletions of chromosome 8p are more frequent than previously thought, but small terminal deletions can easily be overlooked. This observation illustrates that when an AVSD is diagnosed prenatally, special attention should be paid to distal chromosome 8p.

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