由WES-CNV检测到的同时发生的12p三症和4q34.2-q35.2删除:病例报告

Xiaoyu Sun1, Shuangzhu Lin, Wanqi Wang

  • 1College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun, Jilin Province, China.

Medicine
|February 3, 2026
PubMed
概括

这项研究报告了一例罕见的同时出现12p三症和4q缺失的病例,该病例发生在患有全球发育迟缓 (GDD) 的儿童身上. 整体外因子测序确定了这些双复制数变异,导致严重的表型并突出了先进的诊断能力.

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