先天性心脏病患儿染色体22q11微缺失的临床研究  

Clinical research on the microdeletion of chromosome 22q11 in children patients with congenital heart disease

作　　者：张文超[1] 赵梦川 冯志山[1] 李梅[1] 郭映辉[1] 李贵霞[1] ZHANG Wenchao;ZHAO Mengchuan;FENG Zhishan(Department of Clinical Laboratory,Hebei Provincial Children’s Hospital,Shijiazhuang 050031,China)

机构地区：[1]河北省儿童医院检验科,石家庄市050031 [2]河北省儿科研究所

出　　处：《河北医药》2018年第17期2643-2646,共4页Hebei Medical Journal

基　　金：河北省科学技术研究与发展支撑计划项目(编号:12276104D-37)

摘　　要：目的分析染色体核型异常和22q11微缺失与先天性心脏病(先心病)的关系,探讨染色体G显带技术和染色体荧光原位杂交(FISH)技术在先心病诊断中的应用价值。方法收集2012年3月至2014年1月心脏外科住院的先心病患儿510例,应用常规G显带染色体核型分析和FISH技术对收集的先心病患儿进行染色体核型分析和22q11微缺失检测,分析先心病患儿中染色体异常情况,比较单纯先心病组和复杂先心病组之间染色体异常的发生率。结果 510例先心病患儿中单纯性先心病362例,染色体核型异常者2例,占0.55%,22q11.2微缺失9例,发生率为2.49%;复杂性先心病148例,其中染色体核型异常4例,占2.7%,22q11.2微缺失39例,发生率为26.35%。复杂先心病患儿中,染色体核型异常和22q11.2微缺失的发生率均明显高于单纯性先心病患儿,差异有统计学意义(P<0.05)。结论染色体异常是先心病的重要病因之一,单纯的和综合征的先天性心脏缺陷都与22q11.2微缺失相关,先心病患儿应积极行染色体核型分析及FISH等检查。Objective The analyze the relationship between chromosome karyotype abnormality as well as microdeletion of chromosome 22 q11 and congenital heart disease,and to explore the diagnostic value of chromosome G banding and fluorescent in situ hybridization（ FISH） in congenital heart disease（ CHD）. Methods A total of 510 children patients with CHD who were treated in department of cardiac surgery of our hospital from March 2012 to January 2014 were enrolled in the study. The karyotype and 22 q11 microdeletion were detected by conventional G banding karotype analysis and FISH technology. The chromosome abnormalities of children patients with CHD were analyzed and the incidence rate of chromosome abnormalities were observed and compared between the simple CHD group and complex CHD group. Results Among 510 children patients with CHD,there were 362 cases of simple CHD,in whom,there were 2 cases of chromosome abnormalities（ 0. 55%） and 9 cases of 22 q11 microdeletion（ 2. 49%）,moreover,there were 148 cases of complex CHD,in whom,there were 4 cases of chromosome abnormalities（ 2. 7%） and 39 cases of 22 q11 microdeletion（ 26. 35%）. The incidence rates of chromosome abnormalities and 22 q11 microdeletion in complex CHD group were significantly higher than those in simple CHD group（ P 〈 0. 05）. Conclusion Chromosome abnormality is one of the important causes of CHD,single and complex CHD are associated with 22 q11 microdeletions,therefore,the children patients with CHD should be examined actively by karyotype analysis and FISH.

关 键 词：先天性心脏病 荧光原位杂交技术 22Q11.2微缺失 

分 类 号：R541[医药卫生—心血管疾病]