| The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree. | |
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MedLine Citation:
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PMID: 20660977 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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G A Moghe; M S Kaur; A M Thomas; T Raseswari; M Swapna; L Rao |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the Indian Society of Pedodontics and Preventive Dentistry Volume: 28 ISSN: 0970-4388 ISO Abbreviation: J Indian Soc Pedod Prev Dent Publication Date: 2010 Apr-Jun |
Date Detail:
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Created Date: 2010-07-27 Completed Date: 2010-11-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8710631 Medline TA: J Indian Soc Pedod Prev Dent Country: India |
Other Details:
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Languages: eng Pagination: 104-9 Citation Subset: D |
Affiliation:
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Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Research Centre, Dilsukhnagar, Hyderabad, Andhra Pradesh, India. drgayatrimoghe@gmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Chromosome Aberrations* Chromosome Banding / methods Chromosomes, Human, Pair 9 / genetics* Cleft Lip / genetics Cleft Palate / genetics Genetic Heterogeneity Heterochromatin Humans In Situ Hybridization, Fluorescence Interferon Regulatory Factors / genetics Karyotyping Lip / abnormalities* Lod Score Male Oral Fistula / genetics* Pedigree Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Heterochromatin; 0/Interferon Regulatory Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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