64例Turner综合征的染色体核型与临床分析  

Karyotype and clinical analysis in sixty-four cases of Turner syndrome

作　　者：李远眺[1] 李勇[1] 

机构地区：[1]广西医科大学第四附属医院检验科,广西柳州545005

出　　处：《国际检验医学杂志》2013年第3期291-292,295,共3页International Journal of Laboratory Medicine

摘　　要：目的分析Turner综合征的染色体核型与临床特征。方法应用遗传咨询及染色体核型分析法。结果 64例资料中Turner综合征的异常染色体核型大约可分为5大类,分别是单体型、嵌合型、X染色体结构异常、X三体及含Y染色体核型,共检出27种异常核型,其中单体型比例最高约占36%。结论 Turner综合征以蹼颈、身材矮小、原发性闭经、性腺发育不全、第二性征不发育和婴幼儿手足背水肿为主要特征。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,应及早施行预防性性腺切除术,以防恶变。Objective To analyze karyotype and clinical characteristic features of Turner syndrome. Methods Prospective genet- ic counseling and cytogenetic analysis was performed. Results In sixty-four patients with Turner syndrome,karyotype could be di- vided into five major categories, namely simple type, chimeric, X chromosome structural abnormalities, X-trisomy and containing the Y chromosome. Abnormal karyotype was present in 27 of 64 patients with Turner syndrome（42 %）. Simple type was more prevalent among patients with Turner syndrome（36 %）. Conclusion The clinical characteristic features could include short stature, webbed neck, primary amenorrhea, gonadal dysgenesis and so on. The clinical manifestations of chimeras might depend on the proportion of abnormal karyotype with normal karyotype cell lines. Cases containing the Y chromosome could have sex abnormality mostly.

关 键 词：TURNER综合征 染色体核型 临床特征 

分 类 号：R596[医药卫生—内科学]