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.
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
关键词
46
XY性反转
核型分析
SRY基因
46, XY sex - reversal syndrome
Karyotype analysis
SRY gene
