46,XY女性性反转患者细胞遗传学检测  

Analysis on cytogenetics of patients with 46,XY sex-reversal syndrome

作　　者：叶长烂[1] 万淑梅[2] 江悦华[1] 郑霖[1] 张中芬[1] 夏冰[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 [2]广州军区广州总医院妇产科,广州510010

出　　处：《中国优生与遗传杂志》2013年第5期69-70,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的报告8例46,XY女性性反转病例,结合相关文献探讨性反转综合征的发病机制。方法运用细胞遗传学核型分析技术对8例社会性别为女性、因原发性闭经就诊的性发育异常患者进行染色体核型分析。结果 8例女性患者染色体核型均为46,XY,结合临床诊断为46,XY女性性反转综合征。结论 SRY基因突变或缺失是导致性反转综合征的主要病因,对性发育异常患者进行核型分析有利于明确诊断。Objective： To report eight cases and to explore the mechanism of 46, XY female sex- reversal syndrome. Methods： 8 patients with primary amenorrhea and sexual abnormality were analized with the karyotype analysis technique of cytogenetic. Results： Karyotype of 8 cases were 46, XY, diagnosed as 46, XY female sex - reversal syndrome. Conclusions ： The deletion or mutation of SRY gene is the main of sex reversal syndrome. The detection of karyotype for the patient with sexual abnormality can help us to diagnosis.

关 键 词：46 XY性反转 核型分析 SRY基因 

分 类 号：R596.1[医药卫生—内科学]