X染色体异常女性的临床表型分析  

Clinical phenotype analysis of X chromosome abnormalities

作　　者：吕振军 张亮 LV Zhen-jun, ZHANG Liang.(Jinhua Municipal Hospital of Traditional Chinese Medicine Clinical Laboratory , Jinhua Zhejiang , 32100)

机构地区：[1]金华市中医医院检验科,浙江金华321000

出　　处：《中国优生与遗传杂志》2018年第3期44-45,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究X染色体异常与女性生殖异常临床表现的关系。方法对2010年1月-2017年1月在我院门诊就诊的462例女性遗传咨询者行外周血染色体核型分析。结果 462例女性遗传咨询者中检出48例X染色体核型异常,异常比例10.39%。其中X染色体数目异常26例、占异常核型的56.17%;X染色体结构异常15例,占异常核型的31.25%;X染色体数目伴结构异常4例,占异常核型的8.33%,性反转46,XY核型3例,占6.25%。结论 X染色体异常是导致女性生殖发育异常和身材矮小的重要原因。Objective：To study the relationship between X chromosome abnormality and clinical manifestations of female reproductive abnormalities. Methods：The karyotype analysis of peripheral blood chromosomes was performed in 462 female genetic counselors who were treated in our hospital from January 2010 to January 2017. Results：Of the 462 female genetic counselors,48 cases of X chromosome karyotype were abnormal,the abnormal proportion was 10.39%. X chromosome number was abnormal in 26 cases,accounting for 56.17% of abnormal karyotype;X chromosome structure abnormalities in 15 cases,accounting for 31.25% of abnormal karyotype;X chromosome number with structural abnormalities in 4 cases,accounting for 8.33% of abnormal karyotype,Turn 46,XY karyotype in 3 cases,accounting for 6.25%. Conclusion：X chromosome abnormality is an important cause of female reproductive development abnormality and short stature.

关 键 词：外周血染色体核型分析 X染色体 女性生殖发育异常 

分 类 号：R596.1[医药卫生—内科学]