49例Turner综合征的核型与临床表现分析  

Karyotype and clinical feature analysis in forty-nine cases of Turner syndrome

作　　者：令狐克燕 陈琨[2] 骆姝琳[1] 任凌雁[1] 靳倩 LINGHU Keyan;CHEN Kun;LUO Shulin;REN Lingyan;JIN Qian(Department of Clinical Laboratory,People′s Hospital of Guizhou Province,Guiyang,Guizhou 550003,China;Department of Center Laboratory,People′s Hospital of Guizhou Province,Guiyang,Guizhou 550003,China)

机构地区：[1]贵州省人民医院检验科,贵州贵阳550003 [2]贵州省人民医院中心实验室,贵州贵阳550003

出　　处：《国际检验医学杂志》2018年第7期817-819,共3页International Journal of Laboratory Medicine

基　　金：贵州省科技厅与贵州省人民医院联合基金资助项目(黔科合LH字[2015]7168号)

摘　　要：目的分析Turner综合征患者的核型、遗传特征与临床表现。方法采用细胞遗传学分析法、遗传咨询法对确诊的Turner综合征患者临床资料进行分析总结。结果纳入研究的49例Turner综合征的异常核型可分为5大类,分别是简单型、数目异常及嵌合体、结构异常及嵌合体、数目和结构均异常及嵌合体、含Y染色体核型。共检出18种核型,其中简单型比例最高,约占43%。结论 Turner综合征患者不同核型个体的表型可以有较大差异,嵌合体的临床表现取决于异常核型与正常核型细胞系的比例,含Y染色体的病例多有两性畸形。及早诊断Turner综合征对该病具有积极的防治意义,激素治疗可以改善身高及性征发育,含Y染色体注意防止性腺母细胞瘤的发生。Objective To analyze karyotype,genetic characteristics and clinical features of Turner syndrome.Methods Cytogenetic analysis and genetic counseling were performed for patients with the diagnosis of Turner syndrome.Results Analyzed karyotype of forty-nine patients with Turner syndrome,there are five major categories such as simple type,numerical abnormality and chimeras,structural abnormality and chimeras,both numerical abnormality and structural abnormality chimeras,contained the Y chromosome.Abnormal karyotypes were presented at eighteen species.Simple type was the most prevalent type of patients with Turner syndrome(43%).Conclusion Different karyotype exhibit some different phenotype.The clinical manifestation of chimeras might depend on the proportion of abnormal karyotype,Case contained the Y chromosome would be hermaphrodismy mostly.Timely diagnosis of the disease would have positive significance to prevention and therapy.Hormonal therapy could improve patient′s height and gonad development,the case contained the Y chromosome should pay attention to prevent gonadoblastoma.

关 键 词：TURNER综合征 核型 临床表现 

分 类 号：R596.1[医药卫生—内科学]