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.
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Veltman, M.W.M., Thompson, R.J., Craig, E.E. et al. A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study. J Autism Dev Disord 35, 117–127 (2005). https://doi.org/10.1007/s10803-004-1039-1
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DOI: https://doi.org/10.1007/s10803-004-1039-1