应用Bac on Beads技术产前诊断22q11微重复综合征三例

22q11.2 microduplication syndrome detected by Prenatal-Bac on Beads:three cases report

目的应用多种技术对3例22q11.2微重复综合征进行产前诊断,探讨22q11.2微重复综合征胎儿的遗传学特征。方法应用染色体G带、BAC on Beads技术、荧光原位杂交技术和SNP array技术从多个水平对3例22q11.2微重复综合征胎儿断裂位点进行识别与定位。结果 3例经由BAC on Beads技术发现的22q11.2微重复综合征胎儿均经荧光原位杂交技术和SNP array技术证实存在2.8Mb-3.1Mb不等微重复,其中一例经芯片验证为遗传自父亲。结论 BAC on Beads技术应用于产前诊断有利于发现微缺失微重复综合征,避免漏诊。

Objective：To investigate the clinical phenotype and genetic characteristics of three fetal with 22q11.2 deletion detection with Prenatal-Bac on Beads. Methods：Multiplatform techniques including G-banding,Prenatal-Bac on Beads,fluorescence in situ hybridization（FISH）,and SNP array were performed to investigate the deletion of 22q11.2. Results：All deletion of 22q11.2 in fetus was comfirmed either by FISH or SNP array. Conclusion：The bead array approach is a rapid and reliable test for detecting microduplications in prenatal diagnosis.