【摘要】 目的从染色体异常的角度来分析性发育异常的发病原因。方法对在湖南省计划生育研究所和长沙市妇幼保健院就诊的698例性发育异常患者采集其外周血进行染色体核型分析。结果 698例性发育异常患者中检出异常核型80例,其中染色体数目异常55例占7.88%,染色体结构异常17例占2.44%,性反转8例占1.15%。结论 698例性发育异常患者的染色体异常检出率11.46%,染色体检查可作为性发育异常的遗传学诊断方法,为治疗提供重要依据。更多还原

【Abstract】 Objective:To investigate the causes of disorders of sex development by using statistical analysis of chromosome abnormalities.Methods:The karyotype analysis was performed on blood specimens of patients with disorders of sex development selected from The Family Planning Institue of Hunan Province and Changsha Hospital for Maternal & Child Health Care. Result:55 cases of 698 patients showed chromosome number abnormality(7.88%);17 cases showed chromosome structure aberration(2.44%);8 cases showed sex reversal(1.15%). Conclusion:The detection rate of chromosome abnormalities in 698 disorders of sex development reaches 11.46%. Chromosome examination can be used for the genetic diagnosis of disorders of sex development and provide important basis for the treatment.更多还原