Intellectual disability; an example of not relying on karyotype or array comparative genomic hybridization alone

Abstract

Intellectual disability (ID) is a heterogeneous disorder which could have different etiologies. Among these etiologies, genetic causes are important issues. Genetic and pediatric guidelines have suggested using comparative genomic hybridization (CGH) as the first tire test for the diagnosis of such patients. However, in some ID cases such as our patient, we have demonstrated that considering both CGH array and karyotyping without any superiority would be beneficial. In the present report, we demonstrated an ID patient with rare chromosomal abnormalities reported in both conventional karyotype and CGH array.