Open AccessThe role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree
Author(s) -
GA Moghe,
Varinder Kaur,
AM Thomas,
Turlapati Raseswari,
M. Swapna,
Lakshmi Rao
Publication year - 2010
Publication title -
journal of the indian society of pedodontics and preventive dentistry/journal of indian society of pedodontics and preventive dentistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.378
H-Index - 33
eISSN - 1998-3905
pISSN - 0970-4388
DOI - 10.4103/0970-4388.66749
Subject(s) - genetics , phenotype , biology , chromosome , heterochromatin , gene , genotype
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.