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.

SUBMITTER: Coton J 

PROVIDER: S-EPMC5930267 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature