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Updated: Jan 13, 2026

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光学基因组测绘作为未解决平衡转位症的诊断工具,用于怀孕不良结果的夫妇:一个案例系列

Xiaohuan Zhang1, Yingnan Liao1, Li Cao1

  • 1Genetic Diseases Key Laboratory of Sichuan Province, Department of Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

European journal of medical research
|January 8, 2026
PubMed
概括

光学基因组映射 (OGM) 成功识别了常规方法错过的神秘平衡转位. 这种先进的技术有助于诊断复杂的遗传病例,改善对有不良妊娠结果的夫妇的生殖风险评估.

关键词:
复杂的染色体重新安排.隐秘的转位转位是什么意思型化 (Karyotyping) 是一种方法.通过光学基因组映射进行了基因组映射.三元整体外基因组测序

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