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环染色体17综合症-A病例报告和诊断方法的讨论

Sun Young Kim1,2, Elizabeth Wohler1, Maria Jimena Gutierrez3

  • 1McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

American journal of medical genetics. Part A
|November 8, 2024
PubMed
概括

环染色体17和17p13.3删除综合征具有相似的特征,但在特定标记物上有所不同. 光学基因组映射在患者身上确定了这两种情况,突出了其诊断效用.

关键词:
17p13.3删除综合征 17p13.3删除综合征咖啡与牛奶的斑点通过光学基因组映射进行基因组映射.环状染色体 17 的 17 号染色体

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