PMID: 9483642Mar 4, 1998Paper

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

Prenatal Diagnosis
K DevriendtJ P Fryns

Abstract

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.

References

Jun 1, 1992·American Journal of Medical Genetics·R CarmiC Ferencz
Feb 15, 1992·American Journal of Medical Genetics·B MarinoB Dallapiccola
Jun 1, 1992·Journal of Medical Genetics·R HutchinsonL Voullaire
Apr 1, 1990·Clinical Genetics·V PecileG Filippi
Mar 1, 1988·British Heart Journal·M V MachadoL D Allan
Apr 1, 1986·Journal of Medical Genetics·A H Bröcker-VriendsJ J van de Kamp
Sep 1, 1993·American Journal of Medical Genetics·M C DigilioB Dallapiccola

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Citations

Jul 17, 2009·American Journal of Medical Genetics. Part a·Margaret J WatSung-Hae Lee Kang
Mar 16, 2013·American Journal of Medical Genetics. Part a·Rachel D BurnsidePeter Papenhausen
Mar 1, 2006·Pediatric Neurology·Maria Francesca BedeschiRenato Borgatti
Mar 26, 1999·American Journal of Human Genetics·K DevriendtJ R Vermeesch
Apr 17, 2007·American Journal of Human Genetics·A M HolderD A Scott
Jan 23, 1999·American Journal of Medical Genetics·A YenamandraL Mehta

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