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Updated: Jan 16, 2026

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一个罕见的Xq28复制的家族病例

A E Kopytova1, E N Tolmacheva2, D A Emelina3

  • 1Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Center "Kurchatov Institute", Gatchina, Leningradskaya Oblast, Russia Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia.

Vavilovskii zhurnal genetiki i selektsii
|September 26, 2025
PubMed
概括

一个有两个被诊断为轻度智力障碍的男孩的家庭发现了一种致病性Xq28重复. 这种从母亲遗传的遗传原因突显了染色体异常在神经发育障碍中的作用.

关键词:
在 CLIC2For 中使用.在RAB39B中,可以使用RAB39B.在Xq28重复综合征.基于数组的比较基因组杂交.副本数变化 (CNVs) 的变化智力障碍 智力障碍是一种智力障碍.

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