智力残疾患者的远端2q重复。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-11-10 DOI:10.1038/s41439-022-00215-8

Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto

引用次数: 1

摘要

我们报告了一例在2q36.3- q4时出现远端16.4 mb重复的患者，其表现为严重的智力残疾、小头畸形、短头畸形、突出的前额、远视、突出的眼睛、薄的上唇和早孕。使用全外显子组数据的拷贝数分析检测到远端2q重复。这是首次在分子水平上描述远端2q重复的报道。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Distal 2q duplication in a patient with intellectual disability.

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Distal 2q duplication in a patient with intellectual disability.

We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q duplication. This is the first report describing a distal 2q duplication at the molecular level.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks