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目的探讨Y染色体与常染色体易位所产生的遗传效应,为男性不育遗传咨询及治疗提供依据方法回顾性分析8400例不孕不育患者,其中14例为Y染色体与常染色体易位,同时进行Y染色体微缺失检测,并辅以文献学习结果 14例Y-常染色体易位中9例为46,XX/46,XY,der(15)t(Y;15)占Y-常染色体易位的64.3%,其余为Y-非近端着丝粒染色体易位,未发现合并Y染色体微缺失。结论 1.Yq12与近端着丝粒染色体短臂易位,通常不引起表型和生育问题。2.Y染色体与非近端着丝粒染色体易位,会导致减数分裂异常,造成严重的生精障碍,产生无精子症和严重少弱精,从而引起男性不育。
Objective To investigate the genetic effects of Y chromosome and autosomal translocations and to provide a basis for genetic counseling and treatment of male infertility. A retrospective analysis was conducted on 8400 cases of infertility patients, including 14 Y chromosome and autosomal translocations, meanwhile, Ninety-nine cases of Y-autosomal translocations were identified as 46, XX / 46, XY, and der (15) t (Y; 15) in Y-autosomal translocations Of the 64.3%, the rest of the Y-non-proximal centromeric chromosome translocation, found no combined Y chromosome microdeletion. Conclusion 1.Yq12 translocates to the short arm of the proximal centromere, and generally does not cause phenotypic and reproductive problems. 2.Y chromosome and non-proximal centromeric chromosome translocations, will lead to meiotic abnormalities, resulting in severe dysgenesis, resulting in azoospermia and severely weakened, resulting in male infertility.