%0 Journal Article
%T The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree
%A Moghe G
%A Kaur M
%A Thomas A
%A Raseswari T
%J Journal of the Indian Society of Pedodontics and Preventive Dentistry
%D 2010
%I Medknow Publications
%X Van der Woude syndrome (VWS) (OMIM 119300) is a dominantly inherited developmental disorder that is characterized by pits and/or sinuses of the lower lip and cleft lip and/or cleft palate. Mutations in the interferon regulatory factor 6 gene (IRF6) have been recently identified in patients with VWS, with more than 60 mutations reported. We report the phenotypic variants of the syndrome in a family and present the application of the multicolor chromosome banding (mBAND) analysis in the identification of complex intrachromosome rearrangements of chromosome 9 in a child with VWS. The authors conclude that increased heterochromatin on chromosome 9 did not have any effect on the phenotypic expression of the syndrome in the family that was studied.
%K Fluorescent in situ hybridization
%K interferon regulatory factor mutations
%K lower lip pits
%K multicolor chromosome banding
%K orofacial clefting syndromes
%U http://www.jisppd.com/article.asp?issn=0970-4388;year=2010;volume=28;issue=2;spage=104;epage=109;aulast=Moghe