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Updated: Jul 12, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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使用较小的副本数变异呼叫值对染色体微阵列数据的重新分析确定了四个具有ARID1B,EHMT1和FOXP1基因异构体多核删除的病例

Noriko Kubota1, Ryojun Takeda1,2, Jun Kobayashi1

  • 1Life Science Research Center, Nagano Children's Hospital, Azumino, Japan.

Molecular syndromology
|October 30, 2023
PubMed
概括

重新分析染色体微阵列 (CMA) 数据以较低的副本数变异 (CNV) 值显著增加检测率. 这种方法有效地识别了较小,潜在的致病性CNV,提高了基因检测中的诊断产量.

关键词:
在 ARID1B 里面,你会看到 ARID1B.染色体微阵列分析副本数量的变化 副本数量的变化在EHMT1中,这就是FOXP1P.再次进行分析.

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