Mehmet BOZKURT, Emin KAPI, Yalçın KÜLAHÇI, Fatih ZOR, Erol BENLİER, Mahmut BALKAN, Nihal KILINÇ, Necat İMİRZALIOĞLU, Samet Vasfi KUVAT

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

Van der Woude sendromu labial kistler, aksesu- var 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 morfogene- zin etkilendiği tek gen anormalliği ile karakterizedir. Hastalık kromozom 1q32-41 kromozomu ile bağ- lantılı 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

Anahtar Kelimeler:

Genetik, dudak hastalıkları, soyağacı, Van der Woude

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

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.

Keywords:

Genetic, lip diseases, pedigree, Van der Woude,

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