105例性腺发育异常患者染色体的分析

105 samples analysis of chromosome from gonad dysplasia patients

目的研究性腺发育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,用北京国联在线软件进行染色体核型分析,检测105例性腺发育异常患者的染色体核型。结果105例性腺发育异常患者中检出异常核型39例,主要涉及染色体数目异常,结构异常及性反转,另外66例核型虽正常,但也有性腺发育异常表现。结论染色体异常是导致性腺发育异常的重要原因,对性腺发育异常患者行外周血细胞染色体核型检查分析,对研究性腺发育异常的病因、治疗和估计患者预后具有十分重要的意义。

Objective： To investigate the relationship between gonad dysplasia and abnormal chromosome karyotypes, Methods： With cell culture of lymphocytes from peripheral blood , and with Beijing goodline soft method to analyze chromosomal karyotpes, 105 patient with gonad dysplasia were determined. Results ; From 105 cases of gonad dysplasia we detected 39 cases of abnormal karyotype of chromosome that were mainly referred to the abnormalities on number and structure and to sex reversal; in addition, 66 cases although were normal chromosome karyotypes but have clinical appearance of gonad dysplasia to a certain extent. Conclusion： The abnormal of chromosome is one of the most important reasons which causes the gonad dysplasia. It has important meaning to study the pathogeny, treatment and prognosis of gonad dysplasia by examining the patients＇ karyotypes of chromosome.