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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Chromosomal Abnormalities in Infertile Men from Southern India
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Chromosomal Abnormalities in Infertile Men from Southern India

机译：印度南部不育男性的染色体异常

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Background and Objective: Male infertility has been associated with aneuploidies and structural chromosomal abnormalities, Yq microdeletions and specific gene mutations and/or polymorphisms. Besides genetic factors, any block in sperm delivery, endocrine disorders, testicular tumours, infectious diseases, medications, lifestyle factors and environmental toxins can also play a causative role. This study aimed to determine the constitutional karyotype in infertile males having normal female partners in a south Indian population. Materials and Methods: A total of 180 men with a complaint of primary infertility ranging from 1 to 25 years were screened for chromosomal abnormalities through conventional analysis of GTG-banded metaphases from cultured lymphocytes. Results: Four individuals were diagnosed to have Klinefelter syndrome. Two cases exhibited reciprocal translocations and one showed a maternally inherited insertion. Polymorphisms were seen in sixty-seven patients (37.2%). Conclusion: The occurrence of chromosomal abnormalities in 4.6% and variants involving the heterochromatic regions of Y, chromosome 9 and the acrocentric chromosomes in 38.2% of the infertile men with an abnormal seminogram strongly reiterates the inclusion of routine cytogenetic testing and counselling in the diagnostic work-up prior to the use of assisted reproduction technologies.
机译：背景与目的：男性不育与非整倍性和结构性染色体异常，Yq微缺失以及特定基因突变和/或多态性有关。除遗传因素外，精子输送，内分泌失调，睾丸肿瘤，传染病，药物，生活方式因素和环境毒素的任何阻滞也可能起着致病作用。这项研究旨在确定南部印度人口中具有正常女性伴侣的不育男性的体型染色体核型。材料和方法：通过常规分析培养的淋巴细胞中GTG结合的中期，筛选了180名原发性不育主诉1至25岁的男性，检查其染色体异常。结果：四人被诊断患有克氏综合征。 2例表现出相互易位，1例表现出母亲遗传的插入。在67名患者（37.2％）中观察到多态性。结论：精明检查异常的不育男性中4.6％的染色体异常的发生以及涉及Y，9号染色体和近端中心染色体的异色区域的变种在精明检查异常的男性中强烈重申了常规的细胞遗传学检测和咨询的诊断工作-在使用辅助生殖技术之前进行检查。

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