摘要
目的分析儿童智力低下、生长发育障碍与染色体疾病之间的关系。方法搜集2018年6月至2019年6月于我院进行遗传咨询,有智力障碍或生长发育迟缓、特殊面容及其他先天畸形等症状306例儿童为研究对象,进行回顾性分析。常规采取人体外周血淋巴细胞培养3 d,G显带分析核型,必要时结合C显带和N显带进行核型分析。结果306例中,染色体核型异常62例,异常检出率为20.26%;其中常染色体异常41例(13.40%),性染色体异常9例(2.94%),染色体多态12例(3.92%)。结论染色体异常是导致儿童生长发育迟缓、智力障碍以及先天畸形的主要原因之一,染色体检查对疑似病例筛查具有重要意义。
Objective To analyze the relationship between mental retardation,growth disorder and chromosomal diseases in children.Methods A retrospective analysis was conducted on 306 cases of children with mental retardation or growth retardation,special facial features and other congenital malformations who did the genetic counseling in our hospital from June 2018 to June 2019.Human peripheral blood lymphocytes were routinely collected and cultured for 3 days.The karyotype was analyzed by G-banding and,if necessary,by combining C-banding and N-banding.Results In these 306 cases,sixtytwo cases of karyotype abnormalities were found,and the abnormality detection rate was 20.26%.Among them,41 cases(13.40%)were autosomal abnormality,9 cases(2.94%)were sex chromosomal abnormalities,and 12 cases(3.92%)were chromosomal polymorphisms.Conclusion Chromosomal abnormalities are one of the main causes of growth retardation,mental retardation and congenital malformation in children,and chromosomal examination is of great significance in screening suspected cases.
作者
黄鑫
孙艳利
钟倩倩
张磊
HUANG Xin;SUN Yanli;ZHONG Qianqian;ZHANG Lei(Laboratory Department of Liaocheng Dongchangfu Maternal and Child Health Hospital,Liaocheng,Shandong 252000,China)
出处
《中国研究型医院》
2021年第6期66-69,共4页
Chinese Research Hospitals
基金
山东省医药卫生科技发展计划面上项目(2017WS014)。
关键词
染色体
发育迟缓
智力低下
核型分析
Chromosome
Developmental retardation
Mental retardation
Karyotyping
