Molecular Medicine, Reliance Life Sciences Pvt. Ltd., Dhirubhai Ambani Life Sciences Centre, Thane-Belapur Road, Rabale, Navi Mumbai 400 701, India.
Reprod Biomed Online. 2012 Aug;25(2):209-18. doi: 10.1016/j.rbmo.2012.04.004. Epub 2012 Apr 30.
Constitutional chromosomal aberrations contribute to infertility and repeated miscarriage leading to reproductive failure in couples. These aberrations may show no obvious clinical manifestations and remain undetected across multiple generations. However, infertility or recurrent spontaneous pregnancy loss, and/or genotypic/phenotypic aberrations may be manifested in the progeny during gametogenesis. The current study was a retrospective analysis to examine the chromosomal aberrations and prevalence in 2000 couples of Indian ethnicity with reproductive failure. Cytogenetic analysis via conventional G-band karyotyping analysis was carried out on phytohaemagglutinin stimulated peripheral blood lymphocytes, cultured in RPMI1640 medium. The chromosomes were enumerated as per International System for Human Cytogenetic Nomenclature at 500-550 band resolution, and recorded in the screening sheets. Chromosomal aberrations were detected in a total of 110 (2.78%) couples, with structural chromosomal aberrations in 88 cases including reciprocal translocations in 56 cases, Robertsonian translocations in 16 cases, inversions in eight cases, deletions in three cases, derivative chromosomes in five cases and numerical chromosome aberrations in 23 cases. The study emphasizes the importance of cytogenetic work up in both the partners associated with a history of reproductive failure. Genetic counselling with an option of prenatal diagnosis should be offered to couples with chromosomal aberrations.
染色体结构异常导致的染色体核型异常可导致夫妇不孕和反复流产，从而导致生殖失败。这些异常可能没有明显的临床表现，在多代人中都无法被检测到。然而，在配子发生过程中，不孕或反复自然流产和/或基因型/表型异常可能会在后代中表现出来。本研究是一项回顾性分析，旨在检查 2000 对具有生殖失败的印度裔夫妇的染色体异常和流行情况。通过常规 G 带核型分析对植物血球凝集素刺激的外周血淋巴细胞进行细胞遗传学分析，在 RPMI1640 培养基中培养。根据国际人类细胞遗传学命名系统，以 500-550 条带分辨率对染色体进行计数，并记录在筛查表中。共发现 110 对（2.78%）夫妇存在染色体异常，其中 88 例存在结构染色体异常，包括 56 例相互易位、16 例罗伯逊易位、8 例倒位、3 例缺失、5 例衍生染色体和 23 例数目染色体异常。该研究强调了对有生殖失败史的夫妇进行细胞遗传学检查的重要性。对于存在染色体异常的夫妇，应提供遗传咨询和产前诊断的选择。
