Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations. Issue 5 (9th March 2018)

• Record Type: Journal Article
• Authors: Coton, Julie; Labalme, Audrey; Till, Marianne; Bussy, Gerald; Krifi Papoz, Sonia; Lesca, Gaetan; Heron, Delphine; Sanlaville, Damien; Edery, Patrick; des Portes, Vincent; Rossi, Massimiliano
• Is Part Of: Clinical case reports. Volume 6:Issue 5(2018)
• Page Start: 827
• Page End: 834
• Publication Date: 2018-03-09
• Subjects: 17q duplication -- 21q deletion -- chromosomal microarray -- developmental coordination disorder -- dyspraxia -- specific language impairment -- specific learning disorder; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1450
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.