SNP微阵列检测发育迟缓患儿的基因组拷贝数变异

Copy number variations were detected for a pediatric patient by SNP Array

目的检测特殊面容、精神运动发育迟缓的患儿基因组拷贝数变异(CNVs)1例,寻找与遗传学相关的致病因素,并探讨SNP微阵列(SNP Array)在分子细胞遗传学诊断中的优越性。方法应用G显带对患儿及其父母进行核型分析,进一步采用SNP Array对患儿进行CNVs分析,并用荧光原位杂交技术(FISH)对结果进行验证及家系分析。结果患儿及其父母外周血G显带核型分析未见异常,SNP Array结果发现患儿22号染色体q11.2位置出现微缺失,FISH验证了SNP Array结果同时发现患儿的微缺失来源于父方。结论患儿特殊面容、精神运动发育迟缓与22号染色体微缺失相关联,SNP微阵列具有高分辨率和高准确性的优点,是临床遗传学诊断特别是特殊面容、不明原因智力低下患者遗传学诊断的重要技术。

Objective To detect copy number variations of a pediatric patient with special face and delayed psychomotor development,exploring the pathogenic factors of genetics,and investigate the superiority of SNP Array（SNP Array）in molecular cytogenetic diagnosis.Methods The karyotype analysis of the pediatric patient and her parents was by G banding,furthermore,Copy number variations were detected for a pediatric patient by SNP Array while fluorescence in situ hybridization（FISH）was used to verify the results and pedigree analysis.Results The G banding showed the karyotyping of three of them were normal,while the results of the SNP Array demonstrated the micro deletion on chromosome 22location q11.2,the result was verified and the micro deletion found came from her father by Fish.Conclusion The pediatric patient with special face and delayed psychomotor development was associated with the micro deletion on chromosome 22location q11.2,due to its high resolution and accuracy,the SNP array has provided a powerful tool for genetics diagnosis especially for the patients with unexplained mental retardation.