应用多种技术综合诊断胎儿嵌合型X环状染色体

Prenatal diagnosis of 45,X/46,X,r(X)using multiplatform techniques:two cases report

目的应用多种技术对2例嵌合型特纳综合征45,X/46,X,r(X)进行产前诊断,探讨X环状染色体胎儿的遗传学和影像学特征。方法应用染色体G带、Bac-on-Beads技术、荧光原位杂交技术及SNP array技术从多个水平对胎儿进行识别与定位。结果两例嵌合型X环状染色体胎儿经G显带、荧光原位杂交技术、芯片技术等均证实为环状染色体。结论产前诊断中应用多种技术联合检测有利于发现、明确各种染色体异常。

Objective：To investigate the clinical phenotype and genetic characteristics of two fetuses of Turner syndrome with mosaic ring X chromosome. Methods：Multiplatform techniques including G-banding,Prenatal-Bac on Beads,fluorescence in situ hybridization（FISH）,and SNP array were performed to investigate the ring X chromosome. Results：The karyotype of fetuses are confirmed as mos 45,X[18]/46,X,r（X）（q10q13）[32] and 46,X,r（X）（p11.1q13.3）[35]/45,X[15],respectively. Conclusion：Multiplatform techniques is recommended to apply in prenatal diagnosis of chromosome abnormality.