Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome |
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Authors: | Boog Georges Le Vaillant Claudine Collet Michel Dupré Pierre François Parent Philippe Bongain André Benoit Bernard Trastour Claire |
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Institution: | Department of Obstetrics and Fetal Medicine, Pavillon Mère et Enfant, Centre Hospitalier et Universitaire de Nantes, Nantes, France. georges.boog@chu-nantes.fr |
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Abstract: | This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic cerebral lesions, midline fusion defects and bilateral renal hypoplasia may help to refine specific indications for high-resolution banding and molecular analysis by in situ hybridization. |
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