应用单核苷酸多态性微阵列技术诊断Rubinstein-Taybi综合征1例报告  

Application of single nucleotide polymorphism microarray technology in diagnosis of Rubinstein-Taybi syndrome:one case report

作　　者：王艳[1] 洪小杨[1] 彭薇[1] 张晓娟[1] 杨晓[1] 封志纯[1] 

机构地区：[1]北京军区总医院附属八一儿童医院,北京100700

出　　处：《临床儿科杂志》2016年第9期686-688,共3页Journal of Clinical Pediatrics

摘　　要：目的探讨Rubinstein-Taybi综合征的诊断策略。方法对1例临床表现符合Rubinstein-Taybi综合征诊断的患儿应用SNP-array技术进行全基因组拷贝数的变异分析。结果患儿男,2个月,发现16号染色体短臂13.3存在1.8 Mb的缺失变异,位于chr16:2903942-4748851,该区段包含致病基因CREBBP。结论 SNP-array等染色体微阵列分析(CMA)技术可应用于Rubenstein-Taybi综合征的分子诊断。Objective To explore the diagnosis strategy of Rubinstein-Taybi syndrome. Methods SNP-array technology was used to analyze the variation of whole genome copy number in one patient whose clinical features were in accord with the diagnosis of Rubinstein-Taybi syndrome. Results Two-months-old male patient had been detected to have 1. 8 Mb deletion mutation in 16 p 13. 3 region（chr 16 ： 2903942- 4748851）, in which the pathogenic CREBBP gene was located. Conclusions Chromosomal microarray analysis（CMA） technology, such as SNP-array, can be used to make a molecular diagnosis of Rubinstein-Taybi syndrome.

关 键 词：单核苷酸多态性微阵列 Rubenstein-Taybi综合征 分子诊断 

分 类 号：R725.9[医药卫生—儿科]