两例Y染色体嵌合体核型合并Y染色体微缺失病例分析

目的报道两例染色体嵌合体合并Y染色体微缺失的男性无精子症患者。方法利用细胞遗传学核型分析染色体核型;PCR技术检测外周血AZF、SRY基因及血清生殖激素检查为辅助检查。结果核型分析确定两例患者均为嵌合体,一例为46,XX/47,XXdel(Y)(q11),比例是19∶41。SRY基因存在,但Y染色体AZFc、d区sY152,sY157,sY254,sY255位点缺失。激素水平:高促卵泡激素,高黄体生成素,睾酮水平下降;一例为46,XY/45,X(YG),比例是51∶9。SRY基因存在,AZFbc、、d区sY127,sY152,sY157,sY254,sY255位点缺失。激素水平:高黄体生成素,睾酮水平下降。结论 Y染色体上AZFc和AZFd区上的基因可能与Y染色体稳定性相关,染色体嵌合体患者有必要进行Y染色体微缺失检测。

Analyses for two patients of chromosomal chimaera and Y chromosomal microdeletions

Objective To report two male azoospermic cases of chromosomal chimaera and Y chromosomal microdeletions.Methods Using the karyotype analysis technique to analyze karyotype,PCR assay for Y chromosome microdeletions,serum endocrine hormone to assist.Results Two cases all have chromosomal chimaera.One case karyotype is 46,XX/47,XXdel（Y）（q11）,ratio is 19：41.SRY gene exist,but have sY152,sY157,sY254,sY255 microdeletions in the AZFc＋d region.The levels of hormone are high follicle-stimulating hormone,high luteinizing hormone,low testosterone.One case karyotype is 46,XY/45,X（YG）,ratio is 51：9.SRY gene exist,but have sY127,sY152,sY157,sY254,sY255 microdeletions in the AZFb＋c＋d region.The levels of hormone are high luteinizing hormone,low testosterone.Conclusion The genes of AZFc and AZFd regions in Y chromosome could have relationships with the stability of Y chromosome.The patients of chromosomal chimaera should detect Y chromosome microdeletions.