Article
A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study.
Journal of autism and developmental disorders - 1 Feb 2005
Veltman Marijcke W M, Thompson Russell J, Craig Ellen E, Dennis Nicholas R, Roberts Sian E, Moore Vanessa, Brown Josie A, Bolton Patrick F
Abstract excerpt
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....
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