Original Paper

Journal of Autism and Developmental Disorders

, Volume 37, Issue 8, pp 1585-1591

Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q

  • David CohenAffiliated withDépartement de Psychiatrie de l’Enfant et de l’Adolescent, Université Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpétrière, AP-HPCNRS, “Cognition et comportement”, Université Paris V Email author 
  • , Claire MartelAffiliated withDépartement de Psychiatrie de l’Enfant et de l’Adolescent, Université Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpétrière, AP-HP
  • , Anna WilsonAffiliated withINSERM-CEA Unit 562 “Cognitive Neuroimaging”, Service Hospitalier Frédéric Joliot, CEA-DRM-DSV
  • , Nicole DéchambreAffiliated withDépartement de Psychiatrie de l’Enfant et de l’Adolescent, Université Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpétrière, AP-HP
  • , Céline AmyAffiliated withDépartement de Psychiatrie de l’Enfant et de l’Adolescent, Université Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpétrière, AP-HP
  • , Ludovic DuvergerAffiliated withDépartement de Psychiatrie de l’Enfant et de l’Adolescent, Université Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpétrière, AP-HP
  • , Jean-Marc GuileAffiliated withCNRS, “Cognition et comportement”, Université Paris VDépartement de Psychiatrie, Université de Montréal
  • , Eva PipirasAffiliated withService de Cytogénétique, Groupe Hospitalier Jean Verdier
  • , Brigitte BenzackenAffiliated withService de Cytogénétique, Groupe Hospitalier Jean Verdier
    • , Hélène CavéAffiliated withService de Biochimie génétique, Groupe Hospitalier Robert Debré
    • , Laurent CohenAffiliated withINSERM-CEA Unit 562 “Cognitive Neuroimaging”, Service Hospitalier Frédéric Joliot, CEA-DRM-DSV
    • , Delphine HéronAffiliated withFédération de Génétique, Groupe Hospitalier Pitié-Salpétrière
    • , Monique PlazaAffiliated withCNRS, “Cognition et comportement”, Université Paris V

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Abstract

Duplications of chromosome 15 may be one of the most common single genetic causes of autism spectrum disorders (ASD), aside from fragile X. Most of the cases are associated with maternally derived interstitial duplication involving 15q11-13. This case report describes a female proband with a maternally derived interstitial duplication of proximal 15q. She did not exhibit any symptoms of ASD apart from some developmental delay. By adolescence, she showed mild dysmorphism, a discrepant profile on the Wechsler Intelligence Scale for Children (Verbal IQ = 87; Performance IQ = 65) and a major deficit in visual-spatial abilities affecting fine motor skills, mathematical reasoning, visual memory and some global reading tasks. This is one of the first reports of a child with a maternal duplication who exhibits a visual-spatial deficit without ASD.

Keywords

Chromosome 15 Prader-Willi/Angelman Syndrome critical region Maternally derived interstitial duplication Pervasive developmental disorder Visual-spatial deficit