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Journals / Kulak Burun Boğaz İhtisas Dergisi / 2010 / Cilt: 20 - Sayı: 4

Analysis of genetic penetrance in the pedigree of cases with Van der Woude syndrome: Report of five cases

Van der Woude sendromlu olgularımızın soyağacında genetik penetransın analizi: Beş olgu sunumu

Mehmet BOZKURT
Emin KAPI
Yalçın KÜLAHÇI
Fatih ZOR
EROL BENLİER
MAHMUT BALKAN
Nihal KILINÇ
Necat İMİRZALIOĞLU
Samet Vasfi KUVAT
Pages
200–204
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

🎯
Objective & Hypothesis: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.
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Key Findings & Data:It has an autosomal dominant inheritance with involvement of 1q32-41 chromosomal locus.
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Conclusion & Impact: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.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

Özet

Van der Woude sendromu labial kistler, aksesuvar tükürük bezleri, alt dudakta çukurluk, fistül ve paramedyan sinüslerle karakterize, sıklıkla yarık dudak ve damakla birliktelik gösteren doğuştan bir anomalidir. Bu hastalık en sık görülen sendromik yarık anomalisidir. Hastalık kraniofasyal morfogenezin etkilendiği tek gen anormalliği ile karakterizedir. Hastalık kromozom 1q32-41 kromozomu ile bağlantılı olarak otozomal dominant kalıtımlıdır. Buna rağmen gen ekspresyonunun değişkenliğinden dolayı sendrom, bazı bireylerde sadece alt dudakta sinüslerle kendini gösterebilir. Bu yazıda Van der Woude sendromlu beş olgunun soyağacının genetik penetrans analizi sonuçları güncel literatür bilgileri ışığında sunuldu.

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Cite This Article

BOZKURT, M., KAPI, E., KÜLAHÇI, Y., ZOR, F., BENLİER, E., BALKAN, M., KILINÇ, N., İMİRZALIOĞLU, 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 Boğaz İhtisas Dergisi, Cilt: 20 - Sayı: 4, 200–204. https://ajindex.com/articles/343126

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