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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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 ORIGINAL ARTICLE
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


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
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.66749

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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.






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  2005 - Journal of Indian Society of Pedodontics and Preventive Dentistry | Published by Wolters Kluwer - Medknow 
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