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

Julie CotonAudrey LabalmeMarianne TillGerald BussySonia Krifi PapozGaetan LescaDelphine HeronDamien SanlavillePatrick EderyVincent des PortesMassimiliano Rossi

Published in: Clinical case reports (2018)

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.

Keyphrases

intellectual disability
copy number
autism spectrum disorder
mitochondrial dna
genome wide
attention deficit hyperactivity disorder
early onset
dna methylation
clinical evaluation