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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Homozygosity and Heterozygosity of the Pericentric Inversion of Chromosome 9 and Its Clinical Impact
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Homozygosity and Heterozygosity of the Pericentric Inversion of Chromosome 9 and Its Clinical Impact

机译:9号染色体周缘倒置的纯合与杂合及其临床影响

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Introduction: This paper presents a detailed study of inversion in chromosome 9 and its correlation with sub-fertility amongst 26 couples. Until now, there have been conflicting views on the clinical outcome of the pericentric inversion in chromosome 9. Many researchers consider this anomaly as a predisposing factor for infertility. Methods: In the present study, the karyotyping analysis of 500 couples was carried out to investigate the genetic basis for infertility in these subjects. Results and Conclusion: It was observed that a significant fraction (5.2%) of the total group had a pericentric inversion in chromosome 9 as the only known abnormality. The incidence of this abnormality in infertile patients was significantly higher than the reported value of 1%-3% in the normal population. Moreover, it was observed that the incidence of the inv (9) karyotype in the male patients was 2.5 times higher than that in females. These correlations clearly indicated that the inv (9) karyotype was not a normal karyotype but that it had a harmful effect on fertility.
机译:简介:本文对26对夫妇中9号染色体的倒位及其与亚生育力的相关性进行了详细研究。到现在为止,关于9号染色体上的中枢倒置的临床结果一直存在不同的观点。许多研究人员认为这种异常是不孕症的诱因。方法:在本研究中,对500对夫妇进行了染色体核型分析,以调查这些对象中不育症的遗传基础。结果与结论:观察到,在整个组中有很大一部分(5.2%)在9号染色体上有一个中心点倒置,这是唯一已知的异常。不孕患者中这种异常的发生率显着高于正常人群中报道的1%-3%的值。此外,据观察,男性患者的inv(9)核型发生率是女性的2.5倍。这些相关性清楚地表明inv(9)核型不是正常的核型,但是对生育力有有害影响。

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