12例Turner综合征的细胞遗传学分析  

12 cases cytogenetic analysis of Turner syndrome

作　　者：高晓鹏[1] 葛颖[1] 苏德成[1] 

机构地区：[1]西安市儿童医院,陕西西安710002

出　　处：《中医儿科杂志》2011年第3期46-48,共3页Journal of Pediatrics of Traditional Chinese Medicine

摘　　要：目的:了解Turner综合征的临床表型和细胞遗传学特点。方法:对12例Turner综合征患儿外周血淋巴细胞制备常规染色体标本,采用G显带技术进行核型分析,对患儿的临床表型和遗传学特点进行总结和分析。结果:12例Turner综合征的染色体核型中,45,XO共5例,占41.7%;45,XO/46,XX共2例,占16.7%;46,Xi(Xq)共2例,占16.7%;45,XO/46,Xi(Xq)1例,占8.3%;45,XO/47,XXX1例,占8.3%;45,XO/46,XY1例,占8.3%。结论:Turner综合征不同的临床表现取决于染色体核型异常的程度及异常核型和正常核型细胞系的比例,不同患者表现度可存在差异。Objective： To understand the cytogenetic and clinic characteristics of Turner syndrome.Methods： Conventional chromosome samples of 12 Turner syndrome patients＇ peripheral blood lymphocytes were prepared by G banding karyotype analysis,and the clinical phenotype and genetic characteristics were summarized and analyzed.Results： Among the 12 Turner syndrome patients＇ chromosome karyotype,45,XO 5 cases,accounting for 41.7%;45,XO/46,XX 2 cases, accounting for 16.7%;46,Xi（Xq） 2 cases,accounting for 16.7%;45,XO/46,Xi（Xq） 1 cases,accounting for 8.3%;45,XO / 47,XXX 1 cases,accounting for 8.3%;45,XO/46,XY 1 cases,accounting for 8.3%.Conclusion： The different clinical phenotypes of Turner syndromedepends on the extent of chromosome abnormalities and the proportion of abnormal karyotype and normal karyotype cells.Different patients showed different degrees.

关 键 词：TURNER综合征 核型分析 细胞遗传学 

分 类 号：Q343[生物学—遗传学]