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

作者信息

Moghe G A, Kaur M S, Thomas A M, Raseswari T, Swapna M, Rao L

机构信息

Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Research Centre, Dilsukhnagar, Hyderabad, Andhra Pradesh, India.

出版信息

J Indian Soc Pedod Prev Dent. 2010 Apr-Jun;28(2):104-9. doi: 10.4103/0970-4388.66749.


DOI:10.4103/0970-4388.66749
PMID:20660977
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.

摘要

相似文献

[1]
The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree.

J Indian Soc Pedod Prev Dent. 2010

[2]
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Eur J Hum Genet. 2001-10

[3]
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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Van Der Woude Syndrome: A Case Series at Chu D' Treichville, Abidjan, Cote D' Ivoire.

J West Afr Coll Surg. 2023

[2]
Genetic heterogeneity in Van der Woude syndrome: identification of NOL4 and IRF6 haplotype from the noncoding region as candidates in two families.

J Genet. 2018-3

[3]
Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family.

Genet Res (Camb). 2014-10-10

[4]
A case of vander woude syndrome with rare phenotypic expressions.

J Clin Diagn Res. 2014-10

[5]
Van der woude syndrome with short review of the literature.

Case Rep Dent. 2014

[6]
Monozygotic twins with variable expression of Van der Woude syndrome.

Am J Med Genet A. 2011-8

[7]
IRF6 mutations may not be a major cause of Van der Woude syndrome in India.

Eur J Pediatr. 2011-1

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