一例Smith-Magenis患儿的遗传学诊断与分析  

Genetic diagnosis of a child with Smith-Magenis syndrome

作　　者：康冰 王鑫 吴东 杨科 何淼 张波 苏俊祥 刘修铭 廖世秀 KANG Bing;WANG Xin;WU Dong;YANG Ke;HE Miao;ZHANG Bo;SU Junxiang;LIU Xiuming;LIAO Shixiu(Henan Provincial People’s Hospital,People’s Hospital of Zhengzhou University,People’s Hospital of Henan University Medical Genetic Institute of Henan Province Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics National Health Commission Key Laboratory of Birth Defects Prevention Zhengzhou,Zhengzhou,Henan 450003,China)

机构地区：[1]河南省人民医院/郑州大学人民医院/河南大学人民医院河南省医学遗传研究所河南省遗传性疾病功能基因组重点实验室国家卫生健康委出生缺陷预防重点实验室,河南郑州450003

出　　处：《中国优生与遗传杂志》2021年第8期1130-1132,共3页Chinese Journal of Birth Health & Heredity

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20200006)。

摘　　要：目的对1例发育迟缓患儿进行遗传学诊断、分析,为临床咨询提供依据。方法采用常规G显带分析患儿及其父母的外周血染色体核型,利用微阵列比较基因组杂交(aCGH)技术对患儿及其父母外周血进行检测。对检出的拷贝数变异(CNV)致病性采用美国医学遗传学与基因组学学会(ACMG)评分标准进行分类,对患儿基因型与表型关系进行分析。结果G显带核型分析显示,患儿及其父母染色体核型正常。aCGH检测结果显示患儿17p11.2区存在3.28 Mb杂合缺失,其父母未检测到染色体微重复/微缺失。结论患儿17p11.2区微缺失为新发突变,诊断为Smith-Magenis综合征。Objective To determine the origin and pathogenicity of a chromosomal aberration for a child and analyze the possible mechanism.Methods The karotypes of the child and parents were analyzed with routine G-banding.Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH)for the chromosomal duplications/deletions.The pathogenicity of the detected copy number variation(CNV)was classified using the American College of Medical Genetics and Genomics(ACMG)scoring standard.We analyzed the correspondence between genotypes and phenotypes of children.Results There was no karyotypic abnormality detected at cytogenetic level for the child and her parents.ACGH identified a de novo 3.28 Mb deletion at 17 p11.2 in the child.Conclusion The de novo 17 p11.2 deletion is pathogenic.The child was diagnosed with Smith-Magenis syndrome.

关 键 词：Smith-Magenis综合征 微阵列比较基因组杂交 基因诊断 

分 类 号：R725.9[医药卫生—儿科]