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).
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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|
|Subjects:||R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Q Science > QH Natural history > QH426 Genetics
|Divisions:||University Structure - Pre August 2011 > School of Medicine > Human Genetics
|Date Deposited:||04 Apr 2006|
|Last Modified:||01 Apr 2012 02:09|
|Contributors:||Veltman, Marijcke W.M. (Author)
Thompson, Russell J. (Author)
Craig, Ellen E. (Author)
Dennis, Nicholas R. (Author)
Roberts, Sian E. (Author)
Moore, Vanessa (Author)
Brown, Josie A. (Author)
Bolton, Patrick F. (Author)
|Contact Email Address:||firstname.lastname@example.org|
|RDF:||RDF+N-Triples, RDF+N3, RDF+XML, Browse.|
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