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

Julie Coton (1) , Audrey Labalme (1) , Marianne Till (1) , Gerald Bussy (1) , Sonia Krifi Papoz (1) , Gaetan Lesca (1, 2) , Delphine Heron (3) , Damien Sanlaville (1, 2) , Patrick Edery (1, 2) , Vincent Des Portes (1) , Massimiliano Rossi (1, 2)

1 HCL - Hospices Civils de Lyon
2 CRNL - Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center
3 ICM - Institut du Cerveau = Paris Brain Institute

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 .

Mots clés: 17q duplication; 21q deletion; chromosomal microarray; developmental coordination disorder; dyspraxia; specific language impairment; specific learning disorder

Domaines: Génétique humaine; Pédiatrie; Sciences cognitives

Julie Coton, Audrey Labalme, Marianne Till, Gerald Bussy, Sonia Krifi Papoz, et al.. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations. Clinical Case Reports, 2018, 6 (5), pp.827-834. ⟨10.1002/ccr3.1450⟩. ⟨hal-04480033⟩