| Literature DB >> 15305099 |
Georges Boog1, Claudine Le Vaillant, Michel Collet, Pierre François Dupré, Philippe Parent, André Bongain, Bernard Benoit, Claire Trastour.
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. Copyright 2004 S. Karger AG, BaselEntities:
Mesh:
Year: 2004 PMID: 15305099 DOI: 10.1159/000078995
Source DB: PubMed Journal: Fetal Diagn Ther ISSN: 1015-3837 Impact factor: 2.587