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目的探讨无精子症和少精子症患者染色体畸变的发病率和特点。方法常规G显带方法对609例无精子症和少精子症患者行细胞遗传学检测。结果总的染色体异常检出率为12.8%,其中包括46例性染色体非整倍体(59%),7例性染色体结构异常(9%),25例常染色体结构异常(32%)。其中克氏综合征达39例,占检出性染色体非整倍体83%。在206例无精子症患者中检出42例异常核型(20.4%),在228例严重少精子症患者中检出24例异常核型(10.5%),在175例少精子症患者中检出12例异常核型(6.9%)。结论染色体数目异常和结构异常在无精子症和少精子症患者中常见。我们需要更加有效的检测手段提高男性不育检出率。
Objective To investigate the incidence and features of chromosomal aberrations in patients with azoospermia and oligospermia. Methods Conventional G-banding method was used to detect cytogenetics in 609 patients with azoospermia and oligospermia. Results The total detection rate of chromosomal abnormalities was 12.8%, including 46 cases of chromosomal aneuploidy (59%), 7 cases of chromosomal abnormalities (9%) and 25 cases of autosomal abnormalities (32%). Of which 39 cases of Klinefelter syndrome, accounting for 83% of the detected sex chromosome aneuploidy. Twenty-four abnormal karyotypes (20.4%) were detected in 206 azoospermia patients and 24 abnormal karyotypes (10.5%) were detected in 228 patients with severe oligozoospermia Out of 12 cases of abnormal karyotype (6.9%). Conclusion Chromosome number abnormalities and structural abnormalities in azoospermic and oligospermia patients common. We need more effective detection methods to improve the detection rate of male infertility.