论文部分内容阅读
目的对Klinefelter综合征患者进行临床与细胞遗传学的回顾性综合分析。方法收集近7年半本院检出的39例Klinefelter综合征的临床资料与染色体检查结果,染色体检查采用外周血淋巴细胞培养、G显带核型分析方法。结果本研究中典型核型(47,XXY)35例,占90%,嵌合型4例,占10%,大多数临床表现为结婚多年未育、性发育异常或无精症等。结论 Klinefelter综合征是男性不育的重要病因之一,应该尽早进行细胞遗传学检查,尽早治疗。
Objective To retrospectively analyze the clinical and cytogenetic features of patients with Klinefelter syndrome. Methods The clinical data and chromosomal examination results of 39 cases of Klinefelter syndrome detected in our hospital during the past 7 and a half years were collected. Chromosome examination was performed by peripheral blood lymphocyte culture and G - banding karyotype analysis. Results In this study, 35 cases of typical karyotype (47, XXY), accounting for 90%, chimerism in 4 cases, accounting for 10%, the majority of clinical manifestations of marriage for many years without fertility, sexual dysplasia or azoospermia. Conclusion Klinefelter syndrome is one of the important causes of male infertility. Cytogenetic examination should be conducted as soon as possible and treated as soon as possible.