22q11微缺失综合征的产前诊断

摘要

目的 建立22q11微缺失综合征的产前诊断方法.方法 应用细菌人工染色体标记-磁珠鉴别/分离技术(BACs-on-BeadsTM,BoBs)和荧光原位杂交技术(fluorescence in situ hybridization,FISH),对1例羊水染色体培养失败的胎儿及1例疑似22q11微缺失综合征的双胎行产前分子诊断.结果 产前BoBs试剂盒方法检测到1例胎儿及1例双胎均为22q11的微缺失,同时3例胎儿中期分裂细胞的FISH验证结果均显示为22q11微缺失,即在DiGeorge/VCFS N25位点上仅有一个红色荧光信号,对照22号末端22q13.3ARSA位点上有两个绿色荧光信号.结论 产前Bobs方法联合FISH技术可以成为22q11微缺失的一种产前分子诊断手段.%Objective To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome.Methods BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and apair of twin fetuses suspected for 22q11 deletion syndrome.Results 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH,with only one red signal detected at the DiGeorge /VCFS N25 site and two green signals on the 22q13.3 ARSA site.Conclusion The combination of prenatal BoBs and FISH can provide a method for the prenatal diagnosis of 22q11 microdeletion.