609例无精子症和少精子症患者的细胞遗传学分析

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。

Cytogenetic analysis in 609 cases of men with azoospermia or oligozoospermia

Objective：To refine the incidence and nature of chromosomal aberrations in males with infertility.Methods：Giemsa banding chromosome analysis was done in 609 infertile men with oligozoospermia and azoospermia referred for routine cytogenetic analysis.Results：The overall incidence of chromosomal abnormalities was about 12.8%.Of the 78 patients with abnormal cytogenetic findings sex chromosome aneuploidies were observed in 46 （59%）,including Klinefelter syndrome in 39 （83%）.Structural chromosome abnormalities involving autosomes （32%） and sex chromosomes （9%） were detected in 32 infertile men.Abnormal cytogenetic findings were observed in 42 of 206 patients （20.4%） with azoospermia,24 of 228 patients （10.5%） with serve oligozoospermia and 12 of 175 （6.9%） with oligozoospermia.Conclusions：Structural and numerical chromosomal defects are common in azoospermia and oligozoospermia cases.These findings highlight the need for efficient genetic testing in infertile men.