49例Turner综合征的核型与临床表现分析

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 syn-drome.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 chime-ras,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 Turn-er syndrome(43%).Conclusion Different karyotype exhibit some different phenotype.The clinical manifesta-tion 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 preven-tion and therapy.Hormonal therapy could improve patient's height and gonad development,the case contained the Y chromosome should pay attention to prevent gonadoblastoma.