<HashMap><database>biostudies-literature</database><scores/><additional><omics_type>Unknown</omics_type><volume>6(5)</volume><submitter>Coton J</submitter><pubmed_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.</pubmed_abstract><journal>Clinical case reports</journal><pagination>827-834</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC5930267</full_dataset_link><repository>biostudies-literature</repository><pubmed_title>Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.</pubmed_title><pmcid>PMC5930267</pmcid><pubmed_authors>Labalme A</pubmed_authors><pubmed_authors>Bussy G</pubmed_authors><pubmed_authors>Sanlaville D</pubmed_authors><pubmed_authors>Coton J</pubmed_authors><pubmed_authors>Till M</pubmed_authors><pubmed_authors>des Portes V</pubmed_authors><pubmed_authors>Lesca G</pubmed_authors><pubmed_authors>Edery P</pubmed_authors><pubmed_authors>Rossi M</pubmed_authors><pubmed_authors>Heron D</pubmed_authors><pubmed_authors>Krifi Papoz S</pubmed_authors></additional><is_claimable>false</is_claimable><name>Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.</name><description>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.</description><dates><release>2018-01-01T00:00:00Z</release><publication>2018 May</publication><modification>2024-11-20T18:13:07.567Z</modification><creation>2019-03-26T23:37:01Z</creation></dates><accession>S-EPMC5930267</accession><cross_references><pubmed>29744066</pubmed><doi>10.1002/ccr3.1450</doi></cross_references></HashMap>