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目的通过对铜陵地区320例遗传咨询患儿的外周血淋巴细胞染色体检查结果分析,了解本地区小儿染色体病的发病情况,并探讨不同年龄段染色体异常核型的分布特点,为小儿染色体病的诊断和相关遗传咨询提供指导。方法采用外周血淋巴细胞培养培养方法,常规制备染色体标本,G显带技术进行细胞遗传学分析。结果 320例患儿染色体异常119例,异常检出率为37.1%,涉及异常核型20余种。119例异常染色体患者中常染色体异常96例,占80.7%;性染色体异常23例,占19.3%。结论染色体异常是造成智力低下、生长发育落后、先天性多发畸形等的重要原因。染色体核型分析是诊断染色体病以及检出携带者的主要方法。根据不同年龄段染色体异常患儿具有不同临床特点,可以更好地开展染色体检查和遗传咨询工作。
Objective To analyze the chromosomal analysis of peripheral blood lymphocytes in 320 children with genetic counseling in Tongling district to find out the incidence of chromosomal diseases in children in this area and to explore the distribution characteristics of chromosomal abnormalities in different age groups for the diagnosis of pediatric chromosomal diseases And related genetic counseling to provide guidance. Methods Peripheral blood lymphocyte culture method, routine preparation of chromosome specimens, G-banding technique for cytogenetic analysis. Results There were 119 cases of chromosomal abnormalities in 320 children, the abnormal detection rate was 37.1%, involving more than 20 kinds of abnormal karyotypes. Of the 119 patients with abnormal chromosomes, 96 were autosomal abnormalities, accounting for 80.7%; 23 were sex chromosome abnormalities, accounting for 19.3%. Conclusion Chromosomal abnormalities are the main reasons for mental retardation, growth retardation and congenital multiple deformities. Chromosomal karyotyping is the primary method of diagnosing chromosome disease and detecting carriers. According to different age groups chromosomal abnormalities in children with different clinical features, better to carry out chromosome examination and genetic counseling.