无精症患者的细胞遗传学分析——附2例首报异常核型

Cytogenetic Analysis in Patients with Azoospermia-Report of Two Novel Abnormal Karyotypes

目的:探讨无精子症患者的染色体畸变类型。方法:对72例无精子症患者进行染色体核型分析。结果:检出染色体异常核型16例,占22.22%。16例中,性染色体异常13例,占81.25%,常染色体异常3例,占18.75%。性染色体异常中,Klinefelter综合征8例,占61.54%。Y染色体结构、形态异常各1例(46,XY,del(Y)(q11)、46,XY,Yqh+),占15.38%。性反转3例,占23.08%,其中2例社会性别为男性,核型为46,XX;1例社会性别为女性,核型为46,XY。常染色体异常中,22pstk+1例,平衡易位2例(皆为首报异常核型,分别为46,XY,t(6;22)(p23;q11)、46,XY,t(5;14;11)(q15;p11;q23))。结论:无精子症患者进行细胞遗传学分析,对其诊断和治疗具有重要意义。

Objective To investigate the types of chromosome aberration in patients with azoospermia. Methods Karyotype analysis was pertormed in 72 patients with azoopermia. Results Chromosomal abnormalities were detected in 16 cases （22.22%） among which 13 cases were of sex-chromosomal abnormalities （81.25%） and 3 cases were of autosomal abnormalities, （18.75%）. In the cases with sex-chromosome abnormalities, there were 8 cases of klinefelter syndrome （61.54%）, one case of Y chromosome structure and shape abnormalis each, （46,XY,del （Y） （q11）, 46,XY,Yqh＋） （15.38%） and 3 cases of sex-inversion （23.08%） 2 cases were social male with karyotype 46, XX, and 1 case social gender female, but the karyotype was 46, XY. Among the autosomal abnormalities, there were 22pstk＋, 1 case, and balanced translocation in two cases （both abnormal karyotypes 46,XY,t（6,22）（p23,q11）, 46,XY,t（5,14,11）（q15,p11,q23 were novel findings）. Conclusion Cytogenetic analysis in patients with azoospermia was important for diagnosis and treatment.