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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, Greta
Swillen, Ann
Gewillig, Marc
Moerman, Philippe
Vandenberghe, Kamiel
Fryns, Jean-Pierre #
Issue Date: Jan-1998
Series Title: Prenatal Diagnosisvol:18 issue:1 pages:68-72
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.
ISSN: 0197-3851
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group for Adapted Physical Activity and Psychomotor Rehabilitation
Translational Cell & Tissue Research
Pediatric Cardiology Section (-)
Cardiovascular Developmental Biology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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