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

Germana Casaccia, Luisa Mobili, Annabella Braguglia, Francesco Santoro, Pietro Bagolan

Research output: Contribution to journalArticle

Abstract

BACKGROUND: 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. CASE: 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. CONCLUSIONS: 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.

Original languageEnglish
Pages (from-to)210-213
Number of pages4
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume76
Issue number3
DOIs
Publication statusPublished - Mar 2006

Keywords

  • Congenital diaphragmatic hernia
  • Microdeletion
  • Wolf-Hirschhorn syndrome

ASJC Scopus subject areas

  • Developmental Biology

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