Journal of Autism and Developmental Disorders

, Volume 35, Issue 1, pp 117–127 | Cite as

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

  • Marijcke W. M. Veltman
  • Russell J. Thompson
  • Ellen E. Craig
  • Nicholas R. Dennis
  • Sian E. Roberts
  • Vanessa Moore
  • Josie A. Brown
  • Patrick F. Bolton
Article

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 15 Prader-Willi/Angelman Syndrome Critical Region paternally inherited duplication Pervasive Developmental Disorder 

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Copyright information

© Springer Science+Business Media, Inc. 2005

Authors and Affiliations

  • Marijcke W. M. Veltman
    • 1
    • 2
    • 3
    • 8
  • Russell J. Thompson
    • 1
  • Ellen E. Craig
    • 1
    • 2
    • 3
  • Nicholas R. Dennis
    • 4
    • 5
  • Sian E. Roberts
    • 5
    • 6
  • Vanessa Moore
    • 7
  • Josie A. Brown
    • 7
  • Patrick F. Bolton
    • 1
    • 2
    • 3
  1. 1.Developmental Psychiatry SectionUniversity of CambridgeCambridgeUK
  2. 2.Child and Adolescent Psychiatry, Institute of PsychiatryUniversity of LondonUK
  3. 3.MRC Social, Genetic and Developmental Psychiatry Research Centre, Institute of PsychiatryUniversity of LondonUK
  4. 4.Wessex Clinical Genetics ServicePrincess Anne HospitalSouthamptonUK
  5. 5.Department of Human GeneticsUniversity of SouthamptonSouthamptonUK
  6. 6.Wessex Regional Genetics LaboratorySalisbury District HospitalSalisburyUK
  7. 7.Paediatric Medical UnitSouthampton General HospitalSouthamptonUK
  8. 8.Developmental Psychiatry SectionUniversity of CambridgeCambridgeUK

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