Article

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

  • Marijcke W. M. VeltmanAffiliated withDevelopmental Psychiatry Section, University of CambridgeChild and Adolescent Psychiatry, Institute of Psychiatry, University of LondonMRC Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, University of LondonDevelopmental Psychiatry Section, University of Cambridge Email author 
  • , Russell J. ThompsonAffiliated withDevelopmental Psychiatry Section, University of Cambridge
  • , Ellen E. CraigAffiliated withDevelopmental Psychiatry Section, University of CambridgeChild and Adolescent Psychiatry, Institute of Psychiatry, University of LondonMRC Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, University of London
  • , Nicholas R. DennisAffiliated withWessex Clinical Genetics Service, Princess Anne HospitalDepartment of Human Genetics, University of Southampton
  • , Sian E. RobertsAffiliated withDepartment of Human Genetics, University of SouthamptonWessex Regional Genetics Laboratory, Salisbury District Hospital
  • , Vanessa MooreAffiliated withPaediatric Medical Unit, Southampton General Hospital
  • , Josie A. BrownAffiliated withPaediatric Medical Unit, Southampton General Hospital
  • , Patrick F. BoltonAffiliated withDevelopmental Psychiatry Section, University of CambridgeChild and Adolescent Psychiatry, Institute of Psychiatry, University of LondonMRC Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, University of London

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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