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胎儿母源性14号染色体未知结构改变1例

JIANG Miao,DAI Peng,KONG Xiangdong

Chinese Journal of Birth Health & Heredity（2022）

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Abstract
本文报道了1例胎儿染色体核型为46,XN,add(14)(p13)mat的产前诊断病例.孕妇核型为46,XX,t(2;4)(q35;q35),add(14)(p13),G3P0,于20周行羊膜腔穿刺术,进行胎儿羊水细胞的CNV-seq和染色体核型分析.胎儿的CNV-seq结果未见异常,染色体核型结果为46,XN,add(14)(p13)mat.目前,该孕妇已产下一表型正常、发育良好的健康婴儿.
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