论文部分内容阅读
目的通过对无精子症患者行染色体核型分析,探讨无精子症与染色体异常的关系。方法对150例无精子症患者行G显带核型分析,分析染色体异常的类别及其导致无精子症的原因。结果 150例无精子症患者共检出异常核型30例,异常检出率为20.0%。异常核型中数目异常有20例,占异常核型的66.7%(20/30),全部为47,XXY;结构异常有10例,占异常核型的33.3%(10/30),其中罗氏易位45,XY,der(13;14)有3例、常染色体相互易位46,XY,t(6;15)(p21.2;q26)和46,XY,t(3;4)(p13;p14)各1例、Y染色体和常染色体相互易位46,X,t(Y;13)(q12;q22)有1例、大Y染色体46,X,Yqh+有3例、Y倒位46,X,inv(Y)(p11q12)有1例。结论染色体异常是导致无精子症的重要原因,对无精子症患者有必要行染色体核型分析,如果有条件还可以对染色体正常及Y染色体结构异常的无精子症患者做Y染色体微缺失检查,进一步查明无精子症的原因。
Objective To explore the relationship between azoospermia and chromosomal abnormalities by analyzing the karyotypes of patients with azoospermia. Methods 150 cases of azoospermia patients with G-banding karyotype analysis of the types of chromosomal abnormalities and the causes of azoospermia. Results A total of 150 cases of azoospermia were detected abnormal karyotype in 30 cases, the abnormal detection rate was 20.0%. Abnormal number of abnormal karyotype in 20 cases, accounting for 66.7% (20/30) of abnormal karyotype, all of 47, XXY; structural abnormalities in 10 cases, accounting for 33.3% (30/30) abnormal karyotype, of which Roche XY, t (6; 15) (p21.2; q26) and 46, XY, t (3; 4) (3) 1 case of Y chromosome and autosomal translocation 46, 1 case of X, t (Y; 13) (q12; q22), 3 cases of large Y chromosome 46, X, Yqh + 46, X, inv (Y) (p11q12) in 1 case. Conclusion Chromosomal abnormalities are the major causes of azoospermia. It is necessary to perform chromosome karyotyping on patients with azoospermia. If there are conditions, it is also possible to do Y chromosome microdeletion examination on azoospermia patients with normal chromosomes and Y chromosome structure abnormalities. To further identify the causes of azoospermia.