Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

Abstract

Chromosomal microarray ( CMA ) can detect pathogenic copy number variations in 15–20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders ( SLD ) is unknown. Our study emphasizes the usefulness of CMA in the diagnostic workout assessment of familial SLD .