罕见的嵌合型Turner综合征病例报道及遗传学分析  

Rare case report and genetic analysis of chimeric Turner syndrome

作　　者：张林琳[1] 施绍瑞[1] 代云才 罗立[1] 刘佳培[1] 郭雅梅 ZHANG Linlin;SHI Shaorui;DAI Yuncai;LUO Li;LIU Jiapei;GUO Yamei(Genetics Laboratory of The Second People’s Hospital of Yibin,Yibin,Sichuan 644000,China)

机构地区：[1]宜宾市第二人民医院检验科遗传室,四川宜宾644000

出　　处：《中国优生与遗传杂志》2021年第8期1140-1143,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的报道一例罕见的嵌合型Turner综合征的临床病例,分析患者的临床表型特征,并讨论此类疾病的发生机制和遗传学诊断。方法通过对患者外周血淋巴细胞进行培养并行染色体核型分析可以确定其染色体核型。结果患者的外周血染色体核型分析结果为45,X[10]/46,XY[40]。结论45,X/46,XY是一种罕见的嵌合型Turner综合征,其临床表型多种多样,细胞遗传学染色体核型分析技术可以明确诊断此类疾病,并为临床治疗提供更加科学准确的信息和依据。Objective This paper reports a rare case of chimeric Turner syndrome,analyzes the clinical phenotype of the patient,and discusses the pathogenesis and genetic diagnosis of the disease.Methods By culturing peripheral blood lymphocytes of patients and analyzing their karyotypes,we can determine their karyotypes.Results The karyotype of the patient’s peripheral blood was 45,X[10]/46,XY[40].Conclusion 45,X/46,XY is a rare chimeric Turner syndrome with a variety of clinical phenotypes.Cytogenetic karyotype analysis can clearly diagnose such diseases and provide more scientific and accurate information and basis for clinical treatment.

关 键 词：TURNER综合征 嵌合型 性腺发育不全 细胞遗传学 染色体核型分析 

分 类 号：R725.8[医药卫生—儿科]