Pylyp L Y, Spinenko L O, Verhoglyad N V, Kashevarova O O, Zukin V D
Tsitol Genet. 2015 May-Jun;49(3):33-9.
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.
为评估不孕症患者染色体异常的频率和结构，我们对2007年至2012年转诊至生殖医学“纳迪亚”诊所的3414例患者（1741例女性和1673例男性）的细胞遗传学研究进行了回顾性分析。2.37%的患者检测到染色体异常：男性为2.79%，女性为1.95%。平衡的结构性染色体异常多于数目异常，占研究组检测到的所有染色体异常的80.2%。性染色体异常占染色体病理的23.5%（19/81），其中84%的病例（16/19）为性染色体非整倍体，16%的病例（3/19）为Y染色体结构异常。低水平性染色体嵌合体的检出频率为0.55%。我们的结果突出了细胞遗传学研究在寻求辅助生殖技术治疗不孕症患者中的重要性，因为异常发现不仅为不孕症夫妇提供了确切诊断，而且对这类患者的不孕症治疗方法有重大影响。
