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 16p13.3 region (chr16: 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.