Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
J Assist Reprod Genet. 2012 May;29(5):451-6. doi: 10.1007/s10815-012-9737-7. Epub 2012 Mar 11.
To assess the incidence and the type of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 76 Tunisian infertile men (54 nonobstructive azoospermia and 22 oligo-asthenospermia).
Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Molecular diagnosis of classical and partial Y-chromosomal microdeletions was performed by amplifying Y-specific STSs markers.
Various numerical and structural chromosome abnormalities were identified in 15 patients (19.48%). The occurrence of chromosomal abnormality in the azoospermics and severe oligo-asthnospermic was 21.7% and 13.5%, respectively. The most common was Klinefelter syndrome, accounting for 10 of the 15 cytogenetic defects. The total frequency of Y chromosomal microdeletions was 17.1%, with respective frequencies in azoospermic and severe oligospermic groups, 11.1% and 31.8%. The most frequent of Y chromosomal deletions were the partial ones (11.1% in azoospermic and 27.2% in oligospermic).
The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.
为了评估男性不育症患者的染色体异常发生率和类型，我们回顾了 76 例突尼斯不育男性（54 例非梗阻性无精子症和 22 例少弱精子症）的细胞遗传学结果。
采用外周血淋巴细胞常规方法进行核型分析。采用扩增 Y 染色体特异性 STS 标记物的方法对经典和部分 Y 染色体微缺失进行分子诊断。
在 15 名患者（19.48%）中发现了各种数量和结构的染色体异常。在无精子症和严重少弱精子症患者中，染色体异常的发生率分别为 21.7%和 13.5%。最常见的是克氏综合征，占 15 例细胞遗传学缺陷中的 10 例。Y 染色体微缺失的总频率为 17.1%，在无精子症和严重少弱精子症组中的频率分别为 11.1%和 31.8%。Y 染色体缺失最常见的是部分缺失（无精子症中为 11.1%，少弱精子症中为 27.2%）。
在不育男性中染色体异常的发生强烈提示在使用辅助生殖技术之前需要进行常规的遗传检测和咨询。
