【摘要】 目的采用a CGH分析1例发育落后合并自闭症患儿,分析其染色体异常与临床表型的相关性。方法与结果首先应用外周血培养G显带分析患儿及父母染色体核型,然后应用荧光PCR技术对FMR1基因和a CGH技术对患儿进行基因组拷贝数变化的检测分析(copy number variations,CNVs)。患儿与其父外周血染色体核型一致,均为46,XX/Y,t(1;13)(p36.1;p11.2),其母染色体正常,患儿FMR1基因的CGG重复的基因型为30/30次,array-CGH分析发现患儿22q13.31-q13.33存在2.95Mb的致病性缺失片段。结论 22q13.31-q13.33微缺失区域是患儿发育落后、语言障碍、自闭症发生的关键区域。更多还原

【Abstract】 Objective:ACGH was used to analyze the relationship between chromosome abnormality and clinical phenotype in 1 cases of children with autism. Methods:First application of peripheral blood culture G banding karyotype analysis of children and parents,then the application of fluorescence PCR technique to FMR1 gene and a CGH technology for genome copy number variations of children′s testing analysis(copy number variations,CNVs).Results:Agree with her father′s peripheral blood chromosome karyotype,children are 46,XX/Y,t(1;13)(p36.1;p11.2),her mother’s chromosomes is normal. The FMR1 gene of the CGG gene was 30/30,and the CGH- array analysis showed that the 22q13.31-q13.33 of the gene in the children was the absence of 2.95 Mb.Conclusion:22q13.31-q13.33 is a key region in the development of children with developmental lag,language disorder and autism.更多还原