智力残疾患者的远端2q重复。

IF 1 Q4 GENETICS & HEREDITY
Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto
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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.

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
Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
2.30
自引率
0.00%
发文量
39
审稿时长
13 weeks
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