A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study

Content Provider	Semantic Scholar
Author	Veltman, Marijcke W. M. Thompson, Russell J. Craig, Ellen E. Dennis, Nicholas R. Roberts, Siân E. Moore, Vanessa Brown, Josie Bolton, Patrick F.
Copyright Year	2005
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.
Starting Page	117
Ending Page	127
Page Count	11
File Format	PDF HTM / HTML
DOI	10.1007/s10803-004-1039-1
PubMed reference number	15796127
Journal	Medline
Volume Number	35
Alternate Webpage(s)	https://page-one.springer.com/pdf/preview/10.1007/s10803-004-1039-1
Alternate Webpage(s)	https://doi.org/10.1007/s10803-004-1039-1
Journal	Journal of autism and developmental disorders
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article