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The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree.
J Indian Soc Pedod Prev Dent. 2010 Apr-Jun; 28(2):104-9.JI

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+Show Affiliations

Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Research Centre, Dilsukhnagar, Hyderabad, Andhra Pradesh, India. drgayatrimoghe@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20660977

Citation

Moghe, G A., et al. "The Role of 9qh+ in Phenotypic and Genotypic Heterogeneity in a Van Der Woude Syndrome Pedigree." Journal of the Indian Society of Pedodontics and Preventive Dentistry, vol. 28, no. 2, 2010, pp. 104-9.
Moghe GA, Kaur MS, Thomas AM, et al. The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree. J Indian Soc Pedod Prev Dent. 2010;28(2):104-9.
Moghe, G. A., Kaur, M. S., Thomas, A. M., Raseswari, T., Swapna, M., & Rao, L. (2010). The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree. Journal of the Indian Society of Pedodontics and Preventive Dentistry, 28(2), 104-9. https://doi.org/10.4103/0970-4388.66749
Moghe GA, et al. The Role of 9qh+ in Phenotypic and Genotypic Heterogeneity in a Van Der Woude Syndrome Pedigree. J Indian Soc Pedod Prev Dent. 2010 Apr-Jun;28(2):104-9. PubMed PMID: 20660977.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree. AU - Moghe,G A, AU - Kaur,M S, AU - Thomas,A M, AU - Raseswari,T, AU - Swapna,M, AU - Rao,L, PY - 2010/7/28/entrez PY - 2010/7/28/pubmed PY - 2010/11/10/medline SP - 104 EP - 9 JF - Journal of the Indian Society of Pedodontics and Preventive Dentistry JO - J Indian Soc Pedod Prev Dent VL - 28 IS - 2 N2 - 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. SN - 0970-4388 UR - https://www.unboundmedicine.com/medline/citation/20660977/The_role_of_9qh+_in_phenotypic_and_genotypic_heterogeneity_in_a_Van_der_Woude_syndrome_pedigree_ L2 - http://www.diseaseinfosearch.org/result/7346 DB - PRIME DP - Unbound Medicine ER -