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BACs-on-Beads技术对Williams-Beuren综合征的产前诊断

Chun-yan LI,Bi-liang CHEN,Feng YAN,Ting-ting SONG,Hui XU,Ying XU,Yu LI,Lu CHENG,Jiao ZHENG,Jian-fang ZHANG

Chinese Journal of Birth Health & Heredity（2018）

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Abstract
目的 评价BACs-on-Beads (BoBs)技术在产前诊断中的应用价值.方法 应用染色体G显带、BoBs技术和染色体微阵列分析(chromosome microarray analysis,CMA)从多个水平对Williams-Beuren综合征进行确认.结果 羊水细胞染色体核型分析未见异常;BoBs结果显示7q11.2微缺失,判定为Williams-Beuren综合征;CMA验证发现arr [GRCh37]7q11.23 (73,028,758_74,090,648) x1,即7号染色体q11.23区域存在1.06Mb的缺失.结论 BoBs技术能够快速提示染色体微缺失,与CMA及传统细胞学技术相结合,大大提高了产前诊断的效率及准确性.
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