临床多种检测方法联合诊断Klinefelter综合征  

Clinical diagnosis on Klinefelter syndrome combining multiple detection methods

作　　者：柴晓静[1,2] 陆莉[1,2] 闫洁熙 李娟[1,2] Chai Xiao-jing;Lu Li;Yan Jie-xi;Li Juan(The Central Laboratory,The First Hospital of Lanzhou University,Lanzhou 730000,China;The Key Laboratory of Hematological Diseases Genetics of Gansu,The First Hospital of Lanzhou University,Lanzhou 730000,China;Precision Medicine Laboratory,The First Hospital of Lanzhou University,Lanzhou 730000,China)

机构地区：[1]兰州大学第一医院中心实验室,甘肃兰州730000 [2]兰州大学第一医院甘肃省血液病遗传研究重点实验室,甘肃兰州730000 [3]兰州大学第一医院精准医学实验室,甘肃兰州730000

出　　处：《兰州大学学报（医学版）》2022年第8期66-69,75,共5页Journal of Lanzhou University（Medical Sciences）

基　　金：兰州大学第一医院院内基金临床基础研究资助项目(ldyyyn2020-17)。

摘　　要：目的观察罕见嵌合型Klinefelter综合征患者外周血染色体核型和Y染色体上DAZ基因发生微缺失的情况。方法用染色体核型分析技术检测中期分裂相,用荧光原位杂交技术检测间期细胞和Y染色体上DAZ基因的缺失情况。结结果染色体核型分析技术检测各核型的比例为:48,XXYY占92%、47,XXY占5%、47,XYY占3%。荧光原位杂交技术检测各核型的比例为:48,XXYY占82%、47,XXY占14%、47,XYY占1%、46,XY占3%;检测DAZ基因没有缺失。结论联合检测方法的建立提高了检出率,弥补了由于检测方法的单一检测不到的复杂核型。Objective To observe the chromosome karyotype of peripheral blood and microdeletions of DAZ gene on the Y chromosome in rare chimeric Klinefelter syndrome patients.Methods Karyotype analysis technique was used to detect the chromosomes in peripheral blood of patients.Fluorescence in situ hybridization was used to verify the karyotype analysis results and to detect the DAZ gene on Y chromosome at the same time.Results According to the karyotype analysis results:48,XXYY accounted for 92%,47,XXY for 5%,47,XYY for 3%.According to the results of fluorescence in situ hybridization,48,XXYY for 82%,47,XXY for 14%,47,XYY for 1%,46,XY for 3%,and the DAZ gene deletion was not detected.Conclusion Establishment of a combined detection method could improve the detection rate and make up the deficiency that can not be detected by a single method in a complex karyotype.

关 键 词：KLINEFELTER综合征 核型分析 荧光原位杂交 

分 类 号：R394.2[医药卫生—医学遗传学]