摘要
目的 :探讨性反转综合征发病的可能原因。方法 :运用人类外周血淋巴细胞常规染色体核型并结合相关文献资料进行分析。结果 :分析 30个中期分裂相 ,核型均为 4 6 ,XY。结论 :该女性患者为 4 6 ,XY男性性反转综合征 ;SRY基因的突变或缺失以及SOX基因的突变是导致性反转综合征的主要原因。
Objective:To analyze the possible causes of sex reverse syndrome of one female patient.Methods:Human pheripheral blood lymphocytes culture for chromosome and karyotype analysis technique were used to research into the female patient’s karyotype.Results:Thirty metaphase mitotic figures were studied and the female patient’s karyotype was 46,XY.Conclusions:This female patient has 46,XY male reverse syndrome;the mutation of SRY and SOX or SRY’s deletion are the main causes of sex reverse syndrome.
出处
《蚌埠医学院学报》
CAS
2004年第4期289-290,308,共3页
Journal of Bengbu Medical College
基金
安徽省教育厅自然科学研究资助项目 ( 2 0 0 3Kj170 )
