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Distal 4p microdeletion in a case of Wolf‐Hirschhorn syndrome with congenital diaphragmatic hernia

Authors :
Casaccia, Germana
Mobili, Luisa
Braguglia, Annabella
Santoro, Francesco
Bagolan, Pietro
Source :
Birth Defects Research Part A: Clinical and Molecular Teratology; March 2006, Vol. 76 Issue: 3 p210-213, 4p
Publication Year :
2006

Abstract

Wolf‐Hirschhorn syndrome (WHS) is a well‐known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present.A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time.Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Birth Defects Research (Part A), 2006. © 2006 Wiley‐Liss, Inc.

Details

Language :
English
ISSN :
15420752 and 15420760
Volume :
76
Issue :
3
Database :
Supplemental Index
Journal :
Birth Defects Research Part A: Clinical and Molecular Teratology
Publication Type :
Periodical
Accession number :
ejs8661994
Full Text :
https://doi.org/10.1002/bdra.20235