非综合征性腭裂的遗传学洞察。

An insight into genetics of non-syndromic cleft palate.

作者信息

Nouri Nayereh, Karimi Padideh, Mansoor Salehi, Memarzadeh Mehrdad, Ganji Hamid, Sedghi Maryam

机构信息

Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran ; Pediatric Inherited Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Adv Biomed Res. 2013 Mar 6;2:6. doi: 10.4103/2277-9175.107969. Print 2013.

DOI:10.4103/2277-9175.107969

PMID:23930251

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3732890/

Abstract

Our proband is a 29-year-old man, who is affected with soft cleft palate and hypernasality. A study of about six generations of this family pedigree shows that cleft palate has repeatedly occurred in males, with probably a X-linked recessive pattern of inheritance. Interestingly, the sister of the proband is affected with hypernasality and she has an affected son. This is the first report of X-linked inheritance pattern of cleft palate in Iran.

摘要

我们的先证者是一名29岁男性，患有软腭裂和鼻音过重。对这个家族谱系大约六代人的研究表明，腭裂在男性中反复出现，可能呈X连锁隐性遗传模式。有趣的是，先证者的姐姐患有鼻音过重，并且她有一个患病的儿子。这是伊朗关于腭裂X连锁遗传模式的首次报道。