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

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 th...

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Detalles Bibliográficos
Autores principales: Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, Rossi, Massimiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930267/
https://www.ncbi.nlm.nih.gov/pubmed/29744066
http://dx.doi.org/10.1002/ccr3.1450
Descripción
Sumario: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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