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

Julie Coton; Audrey Labalme; Marianne Till; Gerald Bussy; Sonia Krifi Papoz; Gaetan Lesca; Delphine Heron; Damien Sanlaville; Patrick Edery; Vincent des Portes; Massimiliano Rossi

doi:10.1002/ccr3.1450

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

Clin Case Rep. 2018 Mar 9;6(5):827-834. doi: 10.1002/ccr3.1450. eCollection 2018 May.

Authors

Julie Coton¹, Audrey Labalme¹, Marianne Till¹, Gerald Bussy^{2

3}, Sonia Krifi Papoz², Gaetan Lesca^{1

4}, Delphine Heron⁵, Damien Sanlaville^{1

4}, Patrick Edery^{1

4}, Vincent des Portes², Massimiliano Rossi^{1

4}

Affiliations

¹ Centre de référence des anomalies du développement Service de Génétique Hospices Civils de Lyon Bron France.
² Service de Neuropédiatrie Hospices Civils de Lyon Bron France.
³ Service de Génétique CHU de Saint Etienne Saint Etienne France.
⁴ Centre de Recherche en Neurosciences de Lyon INSERM U1028 CNRS UMR5292, GENDEV Team Bron France.
⁵ Département de Génétique et Centre de Référence « Déficiences intellectuelles de causes rares » AP-HP, Groupe Hospitalier Pitié-Salpêtrière et GRC-Génétique des Déficiences Intellectuelles de Causes rares Université Pierre et Marie Curie F-75013 Paris 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.

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

Publication types

Case Reports