Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q

J Autism Dev Disord. 2007 Sep;37(8):1585-91. doi: 10.1007/s10803-006-0228-5. Epub 2006 Sep 28.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / psychology
  • Adolescent
  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / genetics
  • Angelman Syndrome / psychology
  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Autistic Disorder / psychology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15 / genetics*
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Developmental Disabilities / psychology
  • Diagnosis, Differential
  • Female
  • Gene Duplication*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Intellectual Disability / psychology
  • Language Development Disorders / diagnosis
  • Language Development Disorders / genetics
  • Language Development Disorders / psychology
  • Motor Skills Disorders / diagnosis
  • Motor Skills Disorders / genetics
  • Motor Skills Disorders / psychology
  • Neuropsychological Tests
  • Orientation*
  • Pattern Recognition, Visual*
  • Perceptual Disorders / diagnosis
  • Perceptual Disorders / genetics*
  • Perceptual Disorders / psychology
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics
  • Prader-Willi Syndrome / psychology