A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study

Veltman, Marijcke W.M., Thompson, Russell J., Craig, Ellen E., Dennis, Nicholas R., Roberts, Sian E., Moore, Vanessa, Brown, Josie A. and Bolton, Patrick F. (2005) A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study. Journal of Autism and Developmental Disorders, 35 (1), 117-127. (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.

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