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    • CNV-seq是否应成为产前诊断常规?

    胡平,王艳,许争峰

    Chinese Journal of Prenatal Diagnosis(Electronic Version)（2019）

    Cited 4|Views24
    Abstract
    我国出生缺陷发生率约为5 .6％ [1 ] ,很大一部分是由染色体畸变所引起 ,主要包括染色体数目异常、大片段异常和染色体微缺失微重复.染色体畸变涉及多个基因 ,可引起多种组织和器官发育异常 ,绝大部分症状严重 ,且无有效治疗手段 ,受累终生 ,危害严重 ,产前诊断是现阶段预防染色体畸变的最重要手段.
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