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Updated: May 26, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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在患有神经发育障碍的患者中,X染色体上NVs的患病率

Ekaterina N Tolmacheva1, Anna A Kashevarova2, Elizaveta A Fonova3

  • 1Laboratory of Cytogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika Street 10, Tomsk, 634050, Russia. kate.tolmacheva@medgenetics.ru.

Molecular cytogenetics
|February 22, 2025
PubMed
概括

在X染色体上的副本数变异 (CNVs) 在2.8%的神经发育障碍患者中被发现. 在15%的病例中存在X染色体的致病变体,这突显了X染色体无活化分析的重要性.

关键词:
在阿尔赫加普36号.在MID1中,MID1是MID1.在OFD1中,OFD1是OFD1.这就是UBE2A.在CNV中,CNV是NV.神经发育障碍 神经发育障碍一个X染色体不活化.与X相关的智力障碍是X相关的智力障碍.

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