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

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。

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

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.