【摘要】 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。更多还原

【Abstract】 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.更多还原