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Updated: Jan 10, 2026

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在患有自闭症谱系障碍的埃及队列中解读副本数变异和基因含义

Amal M Mohamed1, Ola M Eid2, Khalda S Amr3

  • 1Human Cytogenetic Department, National Research Centre, Cairo, Egypt. amalmahmoud15@yahoo.com.

BMC medical genomics
|November 27, 2025
PubMed
概括

副本数变异 (CNVs) 是自闭症谱系障碍 (ASD) 的关键遗传因素. 这项研究在17.5%的埃及自闭症儿童中确定了致病性CNV,影响神经元基因和特定的行为特征.

关键词:
自闭症谱系障碍 自闭症谱系障碍染色体微阵列是一个微阵列.染色体15q11q13.5是第一个染色体染色体 16p11.2 的情况.复制数的变异是复制数的变异.

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