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[Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: report of five cases].
Kulak Burun Bogaz Ihtis Derg. 2010 Jul-Aug; 20(4):200-4.KB

Abstract

Van der Woude syndrome is a congenital abnormality characterized by labial cysts, accessory salivary glands, pits, fistulas and paramedian sinuses of the lower lips, and is frequently associated with cleft lip and palate. This disease is the most common syndromic cleft abnormality. The disease is characterized by a single gene abnormality where craniofacial morphogenesis is affected. It has an autosomal dominant inheritance with involvement of 1q32-41 chromosomal locus. However, the gene expression profile is variable and the disease may present in some individuals with sinuses of the lower lips only. We present results of analysis of genetic penetrance in the pedigree of five cases with Van der Woude syndrome together with a review of the literature.

Authors+Show Affiliations

Bozkurt M
Dicle Diyarbakir, Üniversitesi Tip Fakltesi, Diyarbakir, Turkey. drmbozkurt@yahoo.com
Kapı E
No affiliation info available
Külahçı Y
No affiliation info available
Zor F
No affiliation info available
Benlier E
No affiliation info available
Balkan M
No affiliation info available
Kılınç N
No affiliation info available
Imirzalıoğlu N
No affiliation info available
Kuvat SV
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentChildChromosome DeletionChromosome MappingChromosomes, Human, Pair 1Cleft LipCleft PalateCystsFemaleGene Expression ProfilingHumansLipMalePedigreeYoung Adult

Pub Type(s)

English Abstract
Journal Article

Language

tur

PubMed ID

20626329

Citation

Bozkurt, Mehmet, et al. "[Analysis of Genetic Penetrance in the Pedigree of Cases With Van Der Woude Syndrome: Report of Five Cases]." Kulak Burun Bogaz Ihtisas Dergisi : KBB = Journal of Ear, Nose, and Throat, vol. 20, no. 4, 2010, pp. 200-4.
Bozkurt M, Kapı E, Külahçı Y, et al. [Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: report of five cases]. Kulak Burun Bogaz Ihtis Derg. 2010;20(4):200-4.
Bozkurt, M., Kapı, E., Külahçı, Y., Zor, F., Benlier, E., Balkan, M., Kılınç, N., Imirzalıoğlu, N., & Kuvat, S. V. (2010). [Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: report of five cases]. Kulak Burun Bogaz Ihtisas Dergisi : KBB = Journal of Ear, Nose, and Throat, 20(4), 200-4.
Bozkurt M, et al. [Analysis of Genetic Penetrance in the Pedigree of Cases With Van Der Woude Syndrome: Report of Five Cases]. Kulak Burun Bogaz Ihtis Derg. 2010 Jul-Aug;20(4):200-4. PubMed PMID: 20626329.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: report of five cases]. AU - Bozkurt,Mehmet, AU - Kapı,Emin, AU - Külahçı,Yalçın, AU - Zor,Fatih, AU - Benlier,Erol, AU - Balkan,Mahmut, AU - Kılınç,Nihal, AU - Imirzalıoğlu,Necat, AU - Kuvat,Samet Vasfi, PY - 2010/7/15/entrez PY - 2010/7/16/pubmed PY - 2011/3/2/medline SP - 200 EP - 4 JF - Kulak burun bogaz ihtisas dergisi : KBB = Journal of ear, nose, and throat JO - Kulak Burun Bogaz Ihtis Derg VL - 20 IS - 4 N2 - Van der Woude syndrome is a congenital abnormality characterized by labial cysts, accessory salivary glands, pits, fistulas and paramedian sinuses of the lower lips, and is frequently associated with cleft lip and palate. This disease is the most common syndromic cleft abnormality. The disease is characterized by a single gene abnormality where craniofacial morphogenesis is affected. It has an autosomal dominant inheritance with involvement of 1q32-41 chromosomal locus. However, the gene expression profile is variable and the disease may present in some individuals with sinuses of the lower lips only. We present results of analysis of genetic penetrance in the pedigree of five cases with Van der Woude syndrome together with a review of the literature. SN - 1300-7475 UR - https://www.unboundmedicine.com/medline/citation/20626329/[Analysis_of_genetic_penetrance_in_the_pedigree_of_cases_with_Van_der_Woude_syndrome:_report_of_five_cases]_ L2 - http://www.diseaseinfosearch.org/result/7346 DB - PRIME DP - Unbound Medicine ER -