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Journal of Autism and Developmental Disorders

Gepubliceerd in:

01-09-2007 | Original Paper

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

Auteurs: 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

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 8/2007

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.

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

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Titel: Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q
Auteurs: 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
Publicatiedatum: 01-09-2007
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 8/2007
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-006-0228-5

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