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Updated: Jul 27, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

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显著的神经认知特征和临床现象与22q11.2位点的拷贝数变化相关

Kathleen P O'Hora1,2, Leila Kushan-Wells1, Gil D Hoftman1

  • 1Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.

medRxiv : the preprint server for health sciences
|June 9, 2023
PubMed
概括

像22q11.2删除 (22qDel) 和重复 (22qDup) 这样的罕见遗传变异会影响神经发育. 22qDel和22qDup携带者都表现出认知缺陷,但22qDel具有更严重的记忆问题.

关键词:
22q11.2 删除综合征22q11.2 重复复制的情况认知 认知 认知副本号码的变化 副本号的变化智力能力 智力能力 智力能力记忆 记忆 记忆 记忆 记忆心理病理学 心理病理学精神错乱是一种精神病.社会功能 社会功能 社会功能快速心脏面部综合征 快速心脏面部综合征

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