Journal of Indian Society of Pedodontics and Preventive Dentistry
Journal of Indian Society of Pedodontics and Preventive Dentistry
                                                   Official journal of the Indian Society of Pedodontics and Preventive Dentistry                           
Year : 2010  |  Volume : 28  |  Issue : 2  |  Page : 104--109

The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree


GA Moghe1, MS Kaur2, AM Thomas3, T Raseswari4, M Swapna5, L Rao6 
1 Senior Lecturer, Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Research Centre, Dilsukhnagar, Hyderabad - 500 060, Andhra Pradesh, India
2 Senior Lecturer, Department of Pedodontics and Preventive Dentistry, BRS Dental College, Panchkula, Haryana, India
3 Professor and Head, Department of Pedodontics and Preventive Dentistry, Christian Dental College, C.M.C, Brown Road, Ludhiana - 141008, Punjab, India
4 Senior Technical Assistant, Centre for Cellular and Molecular Biology, Hyderabad, India
5 Laboratory Assistant, Centre for Cellular and Molecular Biology, Hyderabad, India
6 Scientist, Centre for Cellular and Molecular Biology, Hyderabad, India

Correspondence Address:
G A Moghe
Flat no. 202, Gharonda Sargam Apts., 11-1-269, Sitafalmandi, Secunderabad-500 061
India

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.


How to cite this article:
Moghe G A, Kaur M S, Thomas A M, Raseswari T, Swapna M, Rao L. The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree.J Indian Soc Pedod Prev Dent 2010;28:104-109


How to cite this URL:
Moghe G A, Kaur M S, Thomas A M, Raseswari T, Swapna M, Rao L. The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree. J Indian Soc Pedod Prev Dent [serial online] 2010 [cited 2019 Nov 15 ];28:104-109
Available from: http://www.jisppd.com/article.asp?issn=0970-4388;year=2010;volume=28;issue=2;spage=104;epage=109;aulast=Moghe;type=0