Literature DB >> 15305099

Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome.

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, Basel

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Year:  2004        PMID: 15305099     DOI: 10.1159/000078995

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN: 1015-3837            Impact factor:   2.587


  3 in total

1.  Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Authors:  Daniela Concolino; Elena Rossi; Pietro Strisciuglio; Maria Antonietta Iembo; Roberto Giorda; Roberto Ciccone; Romano Tenconi; Orsetta Zuffardi
Journal:  J Med Genet       Date:  2007-10       Impact factor: 6.318

2.  Extremely low birthweight infant with wolf-hirschhorn syndrome: a dilemma in determination of the optimal timing of delivery.

Authors:  Shigeo Iijima; Takehiko Ohzeki
Journal:  Clin Med Case Rep       Date:  2008-05-16

3.  Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

Authors:  Stavros Sifakis; Emmanouil Manolakos; Annalisa Vetro; Dimitra Kappou; Panagiotis Peitsidis; Maria Kontodiou; Antonios Garas; Nikolaos Vrachnis; Anastasia Konstandinidou; Orsetta Zuffardi; Sandro Orru; Ioannis Papoulidis
Journal:  Mol Cytogenet       Date:  2012-02-28       Impact factor: 2.009

  3 in total

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