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目的利用多种技术对1例Wolf-Hirschhorn综合征进行产前诊断,评价BACs-on-Beads(BoBs)技术的应用价值。方法应用染色体G显带、BoBs技术和染色体微阵列检测(chromosome microarray analysis,CMA)从多个水平对Wolf-Hirschhorn综合征进行识别和确认。结果羊水细胞染色体核型分析结果46,XX,del(4)(p15.3);BoBs结果显示4p16.3微缺失,判定为Wolf-Hirschhorn综合征;CMA结果显示arr[GRCh37]4p16.3p15.32(68,345_15,712,119)x1,即4号染色体p16.3p15.32区域存在15.6Mb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与准确性。
Objective To evaluate the value of BACs-on-Beads (BoBs) in prenatal diagnosis of one case of Wolf-Hirschhorn syndrome by using a variety of techniques. Methods Wolf-Hirschhorn syndrome was identified and confirmed from multiple levels using chromosome G banding, BoBs and chromosome microarray analysis (CMA). Results The results of amniotic fluid cytoplasm karyotype analysis 46, XX, del (4) (p15.3); BoBs results showed that 4p16.3 microdeletions were judged as Wolf-Hirschhorn syndrome; CMA results showed arr [GRCh37] 4p16.3p15. 32 (68,345_15,712,119) x1, ie there is a 15.6 Mb deletion in the region of p16.3p15.32 on chromosome 4. Conclusions BoBs technology can prompt the chromosome microdeletions quickly, and combined with CMA and traditional cytology techniques, greatly improve the efficiency and accuracy of prenatal diagnosis.