Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.,Molecular Genetics & Genomic Medicine

当前位置： X-MOL 学术 › Mol. Genet. Genomic Med. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-07-26 , DOI: 10.1002/mgg3.1418
Sepideh Mehvari ₁ , Farzaneh Larti ₁ , Hao Hu _{2,

3} , Zohreh Fattahi _{1,

4} , Maryam Beheshtian _{1,

4} , Seyedeh Sedigheh Abedini ₁ , Sanaz Arzhangi ₁ , Hans-Hilger Ropers _{2,

5} , Vera M Kalscheuer ₂ , Daniel Auld _{6,

7} , Kimia Kahrizi ₁ , Yasser Riazalhosseini _{6,

7} , Hossein Najmabadi _{1,

4}

Affiliation

The X chromosome has historically been one of the most thoroughly investigated chromosomes regarding intellectual disability (ID), whose etiology is attributed to many factors including copy number variations (CNVs). Duplications of the long arm of the X chromosome have been reported in patients with ID, short stature, facial anomalies, and in many cases hypoplastic genitalia and/or behavioral abnormalities.

中文翻译：

全基因组测序鉴定出一个大的伊朗智障家庭中一个包含Xq13.2q13.3的重复区域。

X染色体历来是关于智力障碍（ID）的研究最彻底的染色体之一，其病因归因于许多因素，包括拷贝数变异（CNV）。在ID，身材矮小，面部异常以及许多情况下生殖器发育不良和/或行为异常的患者中，X染色体长臂出现重复。

更新日期：2020-07-26

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南

全部期刊列表>>