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Updated: Jun 2, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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通过产前微阵列分析和共识报告标准识别的偶然发现 加泰罗尼亚公共卫生网络 XIGENICS 的共识报告标准

Irene Mademont-Soler1,2, Neus Castells-Sarret3,4, Adela Cisneros5

  • 1Àrea de Genètica Clínica i Consell Genètic, Laboratori Clínic Territorial ICS Girona, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain.

Prenatal diagnosis
|January 15, 2025
PubMed
概括

产前微阵列中的偶然发现 (IF) 发生在1.6%的病例中. 新的共识标准将增加对这些副本数变体 (CNVs) 的报告,以确保一致的产前诊断.

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Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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