相关实验视频

Updated: Jun 25, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

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在基于SNP-Array的PGT-SR中偶然发现了一种罕见的UPD:一个案例报告

Yuanlin Ma1,2,3, Jing Wang1,2,3, Tianrui Wen1,2,3

  • 1Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen University, Zhongshan 2nd Road No. 1, Yuexiu District, 510080, Guangzhou, Guangdong, China.

Reproductive sciences (Thousand Oaks, Calif.)
|May 23, 2024
PubMed
概括

这项研究报告了第一个细分单亲异构 (UPD) 病例,该病例在染色体22上具有异构和异构. 这一罕见的发现,在一对相互转位的夫妇强调了需要先进的遗传分析在植入前遗传查.

关键词:
植入前遗传检测,遗传咨询这是一个SNP-array.一个单亲的异构.

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