Ontology highlight
ABSTRACT:
SUBMITTER: Isles AR
PROVIDER: S-EPMC4859484 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
PLoS genetics 20160506 5
Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplicatio ...[more]