부산대학교 도서관

Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes. It also contributes to the identification of genes tha tare responsible for the phenotypes in the new copy number variations. In a 7-year-old female patient with dysmorphic facial findings, autism spectrum disorder (ASD), developmental delayandmentalretardation, wedetected a 3.7 MB deletion in 11p11.2 region in chromosomal microarray test. We observed in our literature review that the deleterious region of our patient's genome also contained the CKAP5 Cytoskeleton associated protein 5 gene which associated with OSB. The small number of 11p11.2 deletion cases have been reported in theliterature. With the deletion in our patient, the function of these region genes will be better understood. Our case provide new insightsi nto the genotype-phenotype correlations of intellectual disability and global developmental delay. [ABSTRACT FROM AUTHOR]