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  • Title: Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.
    Author: Devriendt K, Van Schoubroeck D, Eyskens B, Vantrappen G, Swillen A, Gewillig M, Dumoulin M, Moerman P, Vandenberghe K, Fryns JP.
    Journal: Prenat Diagn; 1998 Jan; 18(1):68-72. PubMed ID: 9483643.
    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.
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