应用荧光原位杂交诊断性染色体异常和绒毛细胞的产前诊断

本文应用近年发展起来的荧光原位杂交（fluorescence in situ hybridization,FISH)技术，对非整倍体染色体45，XX、47，XXX、47，XXY、47，XYY等性染色体异常以生物素标记的X着线粒探针和Y长臀探针进行检测，同时与正常46，XX和46，XY核型作对照，并对两例绒毛细胞作了产前性别诊断，都取得了良好的诊断效果。与常规的诊断有快速、准确、特异等优点。诊断非整倍体性染色体异常和绒毛细胞的产前性别诊断技术性能可靠。为临床多种材料的FISH技术检测打下了基础。

Fish for sex chromosome abnormality and prenatal diagnosis of chorionic villus sampling.

Four cases of sex chromosome aneuploidies including 45,X, 47,XXX, 47,XXY and 47,XYY from peripheral blood lymphocyte and two cases of normal karyotpy 46,XX from uncultured chorionic villus were successfully detected by using fluorescence in situ hybridization (FISH).This evaluation demonstrated that FISH technique with pBamX 7 and pY3.4DNA probes could very rapidly,accurately and specifically diagnose sex chromosome aneuploidies in any cytogenetic and prenatal clinical laboratory.