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Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome
Authors:Boog Georges  Le Vaillant Claudine  Collet Michel  Dupré Pierre François  Parent Philippe  Bongain André  Benoit Bernard  Trastour Claire
Institution:Department of Obstetrics and Fetal Medicine, Pavillon Mère et Enfant, Centre Hospitalier et Universitaire de Nantes, Nantes, France. georges.boog@chu-nantes.fr
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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