39例Klinefelter综合征的临床与细胞遗传学分析  

Analysis of clinicalmanifestations and cytogenetics of 39 cases of Klinefelter syndrome

作　　者：郑霖[1] 夏冰[1] 叶长烂[1] 张中芬[1] 江悦华[1] 王捷[1] 

机构地区：[1]广州军区广州总医院医学实验科,广州510010

出　　处：《中国优生与遗传杂志》2013年第6期57-58,共2页Chinese Journal of Birth Health & Heredity

摘　　要：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 perform a retrospective study of Klinefelter syndrome patients on their clinical and cytogenetic data.Methods：The clinical and chromosome data of 39 patients with Klinefelter syndrome were collected.Peripheral blood lymphocytes were cultivated and chromosome karyotypes were analyzed.Results：In our study,there were 35 cases of typical karyotype of Klinefelter syndrome（90% of total patients）,which was 47,XXY,and 4 cases of Mosaicism（10% of total patients）.Most of the patients came to the clinic because of infertility after several years＇ marriage,disorders of sexual development,or Azoospermia.Conclusion：Klinefelter syndrome is one of the main causes of male infertility,so the patients should be subjected to cytogenetic tests and be treated as early as possible.

关 键 词：KLINEFELTER综合征 临床表现 细胞遗传学 

分 类 号：R596.1[医药卫生—内科学]