Journal of Autism and Developmental Disorders

, Volume 35, Issue 1, pp 117–127

A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study

Authors

    • Developmental Psychiatry SectionUniversity of Cambridge
    • Child and Adolescent Psychiatry, Institute of PsychiatryUniversity of London
    • MRC Social, Genetic and Developmental Psychiatry Research Centre, Institute of PsychiatryUniversity of London
    • Developmental Psychiatry SectionUniversity of Cambridge
  • Russell J. Thompson
    • Developmental Psychiatry SectionUniversity of Cambridge
  • Ellen E. Craig
    • Developmental Psychiatry SectionUniversity of Cambridge
    • Child and Adolescent Psychiatry, Institute of PsychiatryUniversity of London
    • MRC Social, Genetic and Developmental Psychiatry Research Centre, Institute of PsychiatryUniversity of London
  • Nicholas R. Dennis
    • Wessex Clinical Genetics ServicePrincess Anne Hospital
    • Department of Human GeneticsUniversity of Southampton
  • Sian E. Roberts
    • Department of Human GeneticsUniversity of Southampton
    • Wessex Regional Genetics LaboratorySalisbury District Hospital
  • Vanessa Moore
    • Paediatric Medical UnitSouthampton General Hospital
  • Josie A. Brown
    • Paediatric Medical UnitSouthampton General Hospital
  • Patrick F. Bolton
    • Developmental Psychiatry SectionUniversity of Cambridge
    • Child and Adolescent Psychiatry, Institute of PsychiatryUniversity of London
    • MRC Social, Genetic and Developmental Psychiatry Research Centre, Institute of PsychiatryUniversity of London
Article

DOI: 10.1007/s10803-004-1039-1

Cite this article as:
Veltman, M.W.M., Thompson, R.J., Craig, E.E. et al. J Autism Dev Disord (2005) 35: 117. doi:10.1007/s10803-004-1039-1

Abstract

The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11–13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and one of her sisters, carried a paternally derived interstitial duplication involving 15q11–13. The proband showed evidence of ASD (PDD-NOS), borderline mental retardation, mild hypotonia and joint laxity. Her father and her sister were of normal intelligence and neither was thought to have an ASD, although speech/language difficulties and some autistic type behaviours were reported to have been present early in the development of the sister. This is one of the first reports of a child with a paternal duplication and an autism spectrum disorder. More research is required to determine whether paternally derived duplications that involve 15q11–13 are associated with developmental impairments.

Keywords

Chromosome 15Prader-Willi/Angelman Syndrome Critical Regionpaternally inherited duplicationPervasive Developmental Disorder

Copyright information

© Springer Science+Business Media, Inc. 2005