Klinefelter综合征的临床与细胞遗传学分析  

The study on clinics and cytogenetics of Klinefelter syndrome

作　　者：张静敏[1] 王世雄[1] 胡琴[1] 陶炯[1] 曹英[1] 

机构地区：[1]上海交通大学医学院附属新华医院上海市儿科医学研究所,200092

出　　处：《中国优生与遗传杂志》2006年第12期49-50,55,共3页Chinese Journal of Birth Health & Heredity

摘　　要：分析和探讨Klinefelter综合征的，临床以及细胞遗传学特征，通过遗传咨询和染色体核型综合分析进行疾病的诊断。确诊Klinefelter综合征88例，年龄13天-48岁，其中〈1岁3例，占3．4％；1～12岁11例，占12．5％；13～18岁6例，占6．8％；〉18岁68例，占77．3％。睾丸小是Klinefelter综合征最典型的表现。青春发动期以前难以发现。核型为47，XXY（包括变异）77例，占87．5％；嵌合型8例，占9．1％；48，XXYY2例，占2．3％；49，XXXXY1例，占1．1％，细胞遗传学染色体核型分析为确诊的主要手段。To study the phenotype and cytogenetic characteristic of the Klinefeher syndrome, genetic counseling and comprehensive analysis of the karyotype were used to confirm the diagnosis. 88 cases of Klinefeher syndrome have been identified with the age ranged from 13 days to 48 years old. Of them, 3 cases were less than 12 months accounting for 3.4% , while 11 cases aged between 1 and 12 years old accounting for 12. 5% , 6 cases aged between 13 and 18 years old accounting for 6. 8%, 68 cases 〉 18 years old accounting for 77.3%. Small testicle was the main clinical presentation. It was difficult to identify before prepuberty. The karyotype of 47, XXY （include variation） was 77, accounting for 87.5% , mosaic karyotype was 8 cases, accounting for 9. 1% , 48, XXYY was 2 cases, accounting for 2. 3% , 49, XXXXY was 1 case, accounting for 1.1%. The cytogenetic analysis was the main diagnostic approach.

关 键 词：KLINEFELTER综合征 临床特征 细胞遗传学 染色体核型 

分 类 号：R697.22[医药卫生—泌尿科学]