De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features

Salahshourifar I 1 , Halim AS , Sulaiman WA , Ariffin R , Naili Muhamad Nor N , Zilfalil BA

Affiliations 

  • 1 Human Genome Center, Universiti Sains Malaysia, Kubang Kerian, Malaysia
Cytogenet Genome Res, 2011;134(2):83-7.
PMID: 21447942 DOI: 10.1159/000325541

Abstract

Microdeletion of the Van der Woude syndrome (VWS) critical region is a relatively rare event, and only a few cases have been reported in the medical literature. The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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