案例报告:发育迟缓和智力残疾与从t(3;8) 转位遗传的母性衍生染色体3有关

Andrés León1, Alex S Aguirre1,2, Anna Lindstrand3

  • 1School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.

Frontiers in genetics
|December 12, 2025
PubMed
概括

两个神经发育迟缓的兄弟姐妹继承了衍生染色体3,导致染色体3的删除和染色体8的重复. 这些遗传变化解释了他们的智力障碍,并突出了基因剂量效应.

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