1例男性46,XY,t(Y;1)不孕症患者的染色体核型分析

Karyotype 46, XY, t （Y; 1）（q12; p33） in a sterility patient

摘要: 目的了解核型为46,XY,t(Y;1)(q12;p33)伴无精子症男性患者的分子遗传学特点。方法采用常规方法制备外周血淋巴细胞染色体,经G显带进行染色体核型分析。结果患者1号染色体短臂与Y染色体长臂相互易位。结论患者无精子症是由于Y染色体与1号染色体易位所致,携带异常核型染色体,可能是影响生育的重要原因之一。

Abstract: Objective To study the characteristics of molecular genetics of karyotype 46,XY,t（Y;1）（q12;p33） in a male azoospermia patient. Methods Chromosome specimens were prepared with routine method and karyotypes were analyzed using G-banding. Results A translocation of the short arm of chromosome 1 and the long arm of chromosome Y was observed in the patient. Conclusion Azoospermia is caused by the translocation of chromosomes Y and 1.It is one of the important reasons for sterility in those carrying abnormal karyotypes of chromosomes Y and 1.