先天性心脏病患儿124例染色体情况分析.pdfVIP

· 2051· · 论著 · 先天性心脏病患儿124例染色体情况分析 刘珍，李 萍，梁品容，庄 建，赵 杨，余细勇 【摘要】 目的 探讨先天性心脏病患儿的染色体异常和染色体核型情况。方法 抽取124例先天性心脏病患儿 的外周血，检测其染色体并进行分析。结果 124例患儿中，染色体异常者61例，异常率为49．19％；5例多发性畸形 患儿均有染色体异常，右位心和房间隔缺损患儿的染色体异常率也较高，室间隔缺损惠儿的染色体异常率最低，其他 类型患儿均伴有不同程度的染色体异常。61例染色体异常患儿中，常染色体三体30例，其他染色体核型散在分布。结 论 先天性心脏病患儿的染色体异常较常见，常染色体三体所占比例最高，其他类型散在分布。 【关键词】 先天性心脏病；染色体；染色体畸变；核型分析 【中图分类号】R 725．411 【文献标识码】A 【文章编号】1007—9572(2007)24—2051—02 Analysis on Chromosome Aberrations in 124 Cases Children with Congenital Heart Disease LIU Zhen，LI P ，LIANG Pin—rong，et a1．Medical Research Center，the PeopleHospital of Guangdong Province，Guangzhou 5 10080，China 【Abstract】 Objective To study the condition of chromosome aberrations and abnormal karyotypes of children with con— genital heart disease．Methods Extracting the perpheral blood of 124 Cases Children with Congenital Heart Disease，inspection and analysis the condition of chromosome．Results Of 124 cases，the chileren with chromosome aberrations are 61，the abnor— mal rate is 49．19％ ；The 5 cases children with multiple malformations all have chromosome aberrations，the abnormal rate of the children with dextrocardia and atrial septal defect is relatively higher，the abnormal rate of the children with ventricular septal defect is lowest，the children of other types also have chromosome aberrations．Of 61 cases children with chromosome aberra— tions，the children with autosomal three—body are 30，other abnormal karyotypes interspersed distribute．Conclusion The chromosome aberrations in the children with congenital heart disease is relatively common．the rate of autosomal three—boay is highest，other types interspersed distribute． 【Key word】 Congenital heart disease；Chromosomes；Chromosomes aberrations；Karyotyping 先天性心脏病是一种严重的先天性畸形，它严重威胁着患 1．2 方法 无菌抽取患JDJb周血0．8—1．0 m1加至盛有1640 儿的身体健康，也给社会和家庭带来极大的负担。据统计，每