女性性征异常患者的染色体核型与临床研究

Clinical study on the patient with abnormal sexual appearance in female.

目的研究女性性征异常与染色体异常的相关性。方法采用外周血淋巴细胞培养,用ikaros软件进行染色体核型分析,检测92例性征异常患者的染色体核型。结果92例女性性征异常患者中检出异常核型29例,主要渺及染色体数目异常,结构异常及性反转;另外,63例核型虽正常,但性征发育不全。结论女性性异常严重影响人类的生育和婚姻质量,婚前对女性可疑患者进行染色体检查是必要的。

Objective:Study on the relationship between the abnormal sexual appearance in female and chromosome abnormality.Methods:With cell culture of lymphocytes from peripheral blood,and with ikaros soft method to analyse chromosomal karyotpes,92 patient with abnormal sexual appearance were determjinde.Results:From 92 cases of abnormal sexual appearance in female we detected 29 cases of abnormal karyotype of chromosome that were mainly referrde to the abnormalities on number and structure and to sex reversal;in addition,63cases were although normal but sex character developed insufficient.Conclusion: It is necessary to examine the abnormal karyotypes of chromosome in suspected female patients before marriage,because abnormal sexual appearance affects seriously the quality of fertility and matrimony.