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产前BACs-on-Beads技术对一例7q11.2重复综合征的产前诊断 被引量:5

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摘要 目的对1例胎儿产前诊断为7q11.2重复综合征的回顾性分析,评价产前BACs-on-Beads(Bo Bs)技术在产前诊断中的应用价值。方法应用G显带分析羊水细胞染色体,并用Bo Bs分析胎儿常见非整倍体染色体病及了解是否有目标区域微小缺失和重复。结果羊水细胞染色体结果为未见明显异常,Bo Bs结果显示胎儿7q11.2发生微重复。结论 BACson-Beads技术与传统细胞学技术相结合,大大提升产前诊断技术水平。
出处 《中国优生与遗传杂志》 2016年第1期68-69,共2页 Chinese Journal of Birth Health & Heredity
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