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Updated: Jul 28, 2025

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两个兄弟姐妹患有自闭症谱系障碍的病例报告和15q13.3删除

Sawako Furukawa¹, Itaru Kushima^1,2, Branko Aleksic¹

¹Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Neuropsychopharmacology reports

|June 2, 2023

概括

副本数的变化,特别是15q13.3删除,与神经发育障碍有关. 这项研究揭示了不完整的透度和可变的表现力,这表明额外的遗传因素影响了自闭症谱系障碍和多动性多动症.

科学领域:

遗传学遗传学是一个
神经科学是一个神经科学.
发展生物学发展生物学

背景情况:

副本数变异 (CNVs) 与精神病和神经发育障碍有关.
15q13.3删除与自闭症谱系障碍 (ASD),智力障碍 (ID),精神分裂症 (SCZ),注意力缺陷多动症障碍 (ADHD) 和情绪障碍密切相关.

关键词:

DNA复制号变异的变化自闭症谱系障碍自闭症谱系障碍染色体15q13.3微删除综合征相对基因组杂交的比较基因组杂交整个基因组的测序.

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