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- Title
Polyhydramnios as a prenatal symptom of the DiGeorge/velo-cardio-facial syndrome.
- Authors
Devriendt, Koenraad; Van Schoubroeck, Dominique; Eyskens, Benedicte; Vantrappen, Greet; Swillen, Ann; Gewillig, Marc; Dumoulin, Monique; Moerman, Philippe; Vandenberghe, Kamiel; Fryns, Jean-Pierre
- Abstract
Prenatal diagnosis of the DiGeorge/velo-cardio-facial syndrome has become possible since it was recognized that this syndrome is caused by a submicroscopic deletion in chromosome 22q11. In a sporadic patient presenting a conotruncal heart defect and polyhydramnios, the del 22q11 was made prenatally by fluorescence in situ hybridization (FISH) after amniocentesis. Seven additional patients with a del 22q11 were identified, who presented during pregnancy with polyhydramnios. In one of them, unilateral hydronephrosis was present. These findings further add to a growing list of clinical presentations of a del 22q11 and suggest that in patients with polyhydramnios and a conotruncal heart defect or uropathy, fetal karyotyping should be complemented by FISH for a del 22q11. © 1998 John Wiley & Sons, Ltd.
- Publication
Prenatal Diagnosis, 1998, Vol 18, Issue 1, p68
- ISSN
0197-3851
- Publication type
Article
- DOI
10.1002/(SICI)1097-0223(199801)18:1<68::AID-PD211>3.0.CO;2-I