Article: texte impriméBrief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q / David COHEN in Journal of Autism and Developmental Disorders, 37-8 (September 2007) Ouvrir le lien
[article] 
in Journal of Autism and Developmental Disorders > 37-8 (September 2007) . - p.1585-1591
Titre :Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q
Type de document : texte imprimé
Auteurs : David COHEN, Auteur ; Delphine HERON, Auteur ; Laurent COHEN, Auteur ; Hélène CAVE, Auteur ; Brigitte BENZACKEN, Auteur ; Eva PIPIRAS, Auteur ; Jean-Marc GUILE, Auteur ; Ludovic DUVERGER, Auteur ; Céline AMY, Auteur ; Nicole DECHAMBRE, Auteur ; Anna WILSON, Auteur ; Claire MARTEL, Auteur ; Monique PLAZA, Auteur
Article en page(s) : p.1585-1591
Note générale : An erratum to this article can be found at http://dx.doi.org/10.1007/s10803-006-0304-x
Langues :Anglais (eng)
Mots-clés : Chromosome-15 Prader-Willi/Angelman-Syndrome-critical-region Maternally-derived-interstitial-duplication Pervasive-developmental-disorder Visual-spatial-deficit
Index. décimale : PER Périodiques
Résumé : 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.

En ligne : http://dx.doi.org/10.1007/s10803-006-0228-5
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