Y染色体长臂缺失及不分离不育男性1例报道

Report of An Infertile Male with Deletion of Y Chromosome and Its Nondisjunction

目的:报道1例Y染色体长臂缺失合并不分离的男性无精子症患者。方法:常规染色体核型分析,荧光原位杂交以确定核型。PCR-STSs检测以确定Y染色体断裂点,并行睾丸活检。结果:细胞遗传学和FISH证实患者为嵌合体,核型为45,X/46,X,del(Y)/47,X,del(Y)del(Y)。分别占27%,68%,5%。C带显示患者Yq12全部丢失。PCR-STSs检测AZFa存在,AZFb和AZFc区域全部丢失,断裂点位于sY88和sY95之间及sY88以下。睾丸病理显示精曲小管中只有支持细胞,没有生精细胞。未见卵巢组织。结论:患者无精子症、睾丸体积小与病理结果一致,其原因是由于Yq11.2的缺失。

Objective： To report an azoospermia male with a karyotype of 45,X/46,Xdel（Y）/47,X, del（Y） del（Y）. Methods： Karyotyping and FISH were performed to identifiy the karyotype. PCR-STSs was also done to determine the breakpoint of Y chromosome. Testicular tissue was obtained surgically and diagnosed pathologically. Results： Chromosome analysis of blood lymphocytes revealed a mosaicism with 46,X,del（Y）（q11） line in 68% of the metaphases, coexisting with 45,X and 47, X, del （Y） del （Y） cell lines in the remaining metaphases （27% and 5%）. The C- band showed the loss of the heterochromatin region. PCR-STSs showed deletion of regions AZFb and C, with a breakpoint between sY88 and sY95, below sY88. The pathology of testis showed the presence of only Sertoli cells and absence of germ cells in all examined seminiferous tubules. No ovarian tissue was found. Conclusion： The azoospermia with small volume testes was compatible with the testicular pathologic results, which was attributed to the absence of a fragment from Yq11.2 to Yqter.