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720例生殖异常患者的染色体核型分析

         

摘要

目的:探讨男性少、弱、无精症以及胎停育、畸胎、反复性流产等生殖异常患者的细胞遗传学原因。方法:针对我院720例生殖异常患者,做常规技术的外周血淋巴细胞培养,采用 G 显带法进行染色体核型分析。结果:720例生殖异常患者中,检出异常核型69例。其中,多态性核型为49例,包括9qh +3例,inv(9)1例,Ds +/Gs +10例,Yqh +35例。 Turner 综合征3例,Klinefelter 综合征12例,平衡易位等5例。结论:染色体核型异常与生殖异常存在密切的关系,异常核型会导致男性少、弱、无精症以及畸胎孕产史和妊娠的反复失败,且染色体多态性与生殖异常关系尤为密切,建议临床应给予足够重视。%Objective :To investigate the cytogenetic reason of patients under going reproductive abnormalities such as azoospermia ,malformation fetus ,recurrent spontaneous abortion .Methods :For examination of 720 patients with re‐productive abnormalities ,as a conventional technique of peripheral blood lymphocyte culture ,by using G banding kary‐otype analysis .Results :Of 720 patients with abnormal reproductive ,69 cases of abnormal karyotypes was detected in this study .Among them ,there were 49 cases of the polymorphism karyotype ,including 3 cases in 9qh + ,1 case in inv (9) ,10 cases in Ds + /Gs + ,35 cases in Yqh + ,3 cases in Turner syndrome ,12 cases in Klinefelter syndrome ,5 cases in balanced translocation .Conclusion :Abnormal chromosome karyotype and there is a close relationship between reproduc‐tive abnormalities and abnormal karyotype ,leading azoospermia ,malformation fetus ,recurrent spontaneous abortion and so on .Further more ,the relationship is closer between chromosome polymorphism and reproductive abnormalities , therefore ,much more attention should be given to this point in clinical .

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