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Updated: Sep 15, 2025

FISH for Pre-implantation Genetic Diagnosis
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在复杂的der(6)dn中进行叉和模板切换,并重复6q24.3qter和6p25.3:一个案例报告

Thania Alejandra Aguayo-Orozco1, Ma Guadalupe Domínguez-Quezada1, Horacio Rivera2

  • 1División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.

Cytogenetic and genome research
|July 17, 2025
PubMed
概括

这项研究揭示了一种罕见的部分6q三症综合征,由复杂的重排列染色体6 (der) (6) 引起. 复制错误,而不是反转,可能形成了这种结构重组,为基因组变异提供了新的见解.

关键词:
案例报告案例报告染色体的衍生品染色体.叉停机和模板切换可以使用.部分三形6q综合征整个基因组测序的测序

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