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Updated: Jan 13, 2026

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产前诊断的7q11.23副本数变异:一个回顾性的案例系列

Jiong Yan1, Ziyang Liu2, Song Yi3

  • 1Department of Administration Office, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Molecular genetics & genomic medicine
|January 6, 2026
PubMed
概括

威廉姆斯-比伦综合征 (WBS) 的产前诊断涉及复制数变异 (CNVs),显示出各种超声波异常. 基因检测和遗传分析对于准确的WBS诊断和咨询至关重要.

关键词:
7q11.23 微删除 微删除这是一个SNP阵列阵列.威廉姆斯 - 布伦综合征遗传遗传是一种遗传性遗传.产前咨询咨询产前咨询产前超声波 产前超声波

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