Journal of Autism and Developmental Disorders

, Volume 37, Issue 8, pp 1585–1591 | Cite as

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

  • David Cohen
  • Claire Martel
  • Anna Wilson
  • Nicole Déchambre
  • Céline Amy
  • Ludovic Duverger
  • Jean-Marc Guile
  • Eva Pipiras
  • Brigitte Benzacken
  • Hélène Cavé
  • Laurent Cohen
  • Delphine Héron
  • Monique Plaza
Original Paper

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 

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Copyright information

© Springer Science+Business Media, LLC 2006

Authors and Affiliations

  • David Cohen
    • 1
    • 2
  • Claire Martel
    • 1
  • Anna Wilson
    • 3
  • Nicole Déchambre
    • 1
  • Céline Amy
    • 1
  • Ludovic Duverger
    • 1
  • Jean-Marc Guile
    • 4
    • 2
  • Eva Pipiras
    • 5
  • Brigitte Benzacken
    • 5
  • Hélène Cavé
    • 6
  • Laurent Cohen
    • 3
  • Delphine Héron
    • 7
  • Monique Plaza
    • 2
  1. 1.Département de Psychiatrie de l’Enfant et de l’AdolescentUniversité Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpétrière, AP-HPParisFrance
  2. 2.CNRS, “Cognition et comportement”, Université Paris VBoulogneFrance
  3. 3.INSERM-CEA Unit 562 “Cognitive Neuroimaging”, Service Hospitalier Frédéric Joliot, CEA-DRM-DSVOrsayFrance
  4. 4.Département de PsychiatrieUniversité de MontréalMontréalCanada
  5. 5.Service de CytogénétiqueGroupe Hospitalier Jean VerdierBondyFrance
  6. 6.Service de Biochimie génétiqueGroupe Hospitalier Robert DebréParisFrance
  7. 7.Fédération de GénétiqueGroupe Hospitalier Pitié-SalpétrièreParisFrance

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