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ERIC Number: EJ772657
Record Type: Journal
Publication Date: 2007-Sep
Pages: 7
Abstractor: Author
Reference Count: N/A
ISSN: ISSN-0162-3257
Brief Report: Visual-Spatial Deficit in a 16-Year-Old Girl with Maternally Derived Duplication of Proximal 15q
Cohen, David; Martel, Claire; Wilson, Anna; Dechambre, Nicole; Amy, Celine; Duverger, Ludovic; Guile, Jean-Marc; Pipiras, Eva; Benzacken, Brigitte; Cave, Helene; Cohen, Laurent; Heron, Delphine; Plaza, Monique
Journal of Autism and Developmental Disorders, v37 n8 p1585-1591 Sep 2007
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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Publication Type: Journal Articles; Reports - Research
Education Level: Early Childhood Education
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Identifiers - Assessments and Surveys: Wechsler Intelligence Scale for Children