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Updated: Jun 21, 2025

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使用基因组测序的光学基因组映射识别了多系统发育障碍的男性中Xq28亚端粒删除和插入的7p22.3重复

Jorge L Rodriguez-Gil1,2, Peter L Nagy3, Uta Francke1

  • 1Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California, USA.

American journal of medical genetics. Part A
|July 16, 2024
PubMed
概括

先进的基因测序确定了一个复杂的X染色体重排在一个男性患者的发育迟缓和身体异常. 这一发现表明了光学基因组映射和基因组测序的联合力量,用于诊断罕见的遗传疾病.

关键词:
7p22.3 重复复制的情况Xq28 删除 删除 删除莫亚莫亚疾病4通过光学基因组映射进行基因组映射.上膜大动脉狭窄症上膜大动脉狭窄症整个基因组的测序.

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