Prenatal Sonographic Patterns in Six Cases of Wolf-Hirschhorn (4p–) Syndrome

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. Fortuna...

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Veröffentlicht in:Fetal diagnosis and therapy 2004-09, Vol.19 (5), p.421-430
Hauptverfasser: Boog, Georges, Le Vaillant, Claudine, Collet, Michel, Dupré, Pierre François, Parent, Philippe, Bongain, André, Benoit, Bernard, Trastour, Claire
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Sprache:eng
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Zusammenfassung: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.
ISSN:1015-3837
1421-9964
DOI:10.1159/000078995