16例Turner综合征的细胞遗传学分析  

Cytogenetic analysis of 16 case of Turner syndrome

作　　者：昌业伟[1] 贾庆华[1] 唐瑜[1] 王晓辉[1] 杨霄鹏[1] 马明仁[1] 惠玲[1] 王美亮[1] 哈小琴[1] 

机构地区：[1]兰州军区兰州总医院医学实验科,甘肃省干细胞与基因药物重点实验室,兰州730050

出　　处：《中国优生与遗传杂志》2013年第4期62-63,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析Turner综合征不同核型的遗传学特征、临床表现及其关系。方法外周血淋巴细胞G带分析。结果 16例Turner综合征患者中单体45,X0 6例(37.50%),46,X0/46,XX嵌合体1例(6.25%),46,Xi(Xq)1例(6.25%),47,XXX 4例(25.00%),46,XY/45,X0 3例(18.75%),46,XX,del(Xq24)1例(6.25%)。结论 X染色体数目异常及结构畸变是导致Turner综合征的主要原因,多种异常核型均不同程度导致女性生长缓慢、性腺发育不良、闭经及智力低下等其他器官功能异常。Objective ： To analyze the association between various chromosome karyotypes of Turner Syndrome and their clinic man- ifestation. Methods ： G banding of peripheral blood lymphocytes were used to analyze chromosomes in the patients. Results ： Among 16 Turner syndrome patients there were 6 case of mosaic 45, XO （37.50%） ; 1 case of mosaic 46, X0/46, XX （6. 25% ） ; 1 case of 46, Xi （Xq） （6.25%）; 4 case of 47, XXX （25.00%）; 3 case of 46, XY/45, X0 （18.75%）; 1 case of 46, XX, del （Xq24） （6. 25% ）. Conclusion： The primary reason of turner syndrome is the numerical anomalies and structural aberrations aberra- tions of X chromosome. Many kinds of organ dysfunctions, such as slow growth, gonadal dysgenesis, amenorrhea and mental retardation are caused by abnormal karyotype.

关 键 词：TURNER综合征 核型分析 产前诊断 G带 

分 类 号：R725.9[医药卫生—儿科] R596[医药卫生—临床医学]