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Published on: October 20, 2023
Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q)
Julie Coton1, Audrey Labalme1, Marianne Till1
1Centre de référence des anomalies du développement Service de Génétique Hospices Civils de Lyon Bron France.
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.
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