title: The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree.
abstract: 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.
authors.affiliation: Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Research Centre, Dilsukhnagar, Hyderabad, Andhra Pradesh, India. drgayatrimoghe@gmail.com
authors.forename: G A
authors.initials: GA
authors.lastname: Moghe
authors.forename: M S
authors.initials: MS
authors.lastname: Kaur
authors.forename: A M
authors.initials: AM
authors.lastname: Thomas
authors.forename: T
authors.initials: T
authors.lastname: Raseswari
authors.forename: M
authors.initials: M
authors.lastname: Swapna
authors.forename: L
authors.initials: L
authors.lastname: Rao
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000379:methods; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D018740:Genetic Heterogeneity; D006570:Heterochromatin; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D050835:Interferon Regulatory Factors / Q000235:genetics; D007621:Karyotyping; D008046:Lip / Q000002:abnormalities*; D008126:Lod Score; D008297:Male; D016155:Oral Fistula / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D006570:Heterochromatin; D050835:Interferon Regulatory Factors