【不孕症患者染色体异常】。

TSitologiia i genetika Pub Date : 2015-05-01
L Y Pylyp, L O Spinenko, N V Verhoglyad, O O Kashevarova, V D Zukin
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引用次数: 0

摘要

为了评估不孕症患者染色体异常的频率和结构,回顾性分析了2007年至2012年在生殖医学诊所“Nadiya”就诊的3414例患者(女性1741例,男性1673例)的细胞遗传学研究。染色体异常占2.37%,其中男性2.79%,女性1.95%。平衡结构染色体异常优于数值异常,在研究组中检测到的所有染色体异常中占80.2%。性染色体异常占染色体病理的23.5%(19/81),其中性腺非整倍体占84% (16/19),Y染色体结构异常占16%(3/19)。低水平性染色体嵌合体检出率为0.55%。我们的研究结果强调了细胞遗传学研究在通过辅助生殖技术寻求不孕症治疗的患者中的重要性,因为异常发现不仅为不孕症夫妇提供了明确的诊断,而且还显著影响了这类患者的不孕症治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH INFERTILITY].

To assess the frequency and structure of chromosomal abnormalities in patients with infertility, a retrospective analysis of cytogenetic studies of 3414 patients (1741 females and 1673 males), referred to the Clinic of reproductive medicine "Nadiya" from 2007 to 2012, was performed. Chromosomal abnormalities were detected in 2.37% patients: 2.79% in males and 1.95% in females. Balanced structural chromosomal abnormalities prevailed over numerical abnormalities and corresponded to 80.2% of all chromosomal abnormalities detected in the studied group. Sex chromosome abnormalities made up 23.5% of chromosomal pathology (19/81) and included gonosomal aneuploidies in 84% of cases (16/19) and structural abnormalities of chromosome Y in 16% of cases (3/19). The low level sex chromosome mosaicism was detected with the frequency of 0.55%. Our results highlight the importance of cytogenetic studies in patients seeking infertility treatment by assisted reproductive technologies, since an abnormal finding not only provide a firm diagnosis to couples with infertility, but also influences significantly the approach to infertility treatment in such patients.

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