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- Title
A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study.
- Authors
Veltman, Marijcke; Thompson, Russell; Craig, Ellen; Dennis, Nicholas; Roberts, Sian; Moore, Vanessa; Brown, Josie; Bolton, Patrick
- 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.
- Subjects
PRADER-Willi syndrome; ANGELMAN syndrome; INTELLECTUAL disabilities; DEVELOPMENTAL disabilities; DISABILITIES; GENETIC disorders
- Publication
Journal of Autism & Developmental Disorders, 2005, Vol 35, Issue 1, p117
- ISSN
0162-3257
- Publication type
Article
- DOI
10.1007/s10803-004-1039-1