698例性发育异常患者染色体核型分析  

Chromosome analysis of 698 disorders of sex development

作　　者：范幸[1] 林继武[2] 龚云[2] 吴嵩龄[2] 陈勇[2] 

机构地区：[1]长沙市妇幼保健院,长沙410007 [2]湖南省计划生育研究所现代优生技术湖南省重点实验室,长沙410126

出　　处：《中国优生与遗传杂志》2015年第6期52-53,65,共3页Chinese Journal of Birth Health & Heredity

基　　金：湖南省科技厅资助项目(2011TF1011)

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。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.

关 键 词：性发育异常 染色体 核型分析 

分 类 号：R596.1[医药卫生—内科学]