This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the @entity6038 critical region (PWACR). Twenty-one affected individuals from six families were evaluated in detail, using standardized and semi-standardized measures of intelligence, psychopathology, and physical anomalies. Special attention was placed on determining the prevalence of @entity72 as well as the relationship between the parental origin of the duplication and the phenotypic effects. Assessments of the affected individuals were compared with evaluations of the unaffected relatives from the same families. Results indicated that duplications in the region were associated with variable degrees of @entity73 and motor coordination problems. Four of the subjects received a diagnosis of @entity245 . Three of these cases were probands and only one met criteria for classic @entity2438 . There was very little evidence of the duplication cosegregating with @entity72 diagnosis. Paternally inherited duplications were significantly less likely to give rise to phenotypic effects. The findings indicate that duplications in the PWACR give rise to @entity245 but not necessarily @entity72 . They also suggest that phenotypic expression is dependent on the parental origin of the duplication and implicate maternally active genes in the pathogenesis of the @entity73 . Further research will be required to clarify the range and basis of the phenotypic manifestations.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the XXXX .

@entity73 :: ('MESH:D003072', 'Disease') :: ['intellectual impairments', 'developmental impairments'] @entity245 :: ('MESH:D002658', 'Disease') :: ['developmental delay', 'pervasive developmental disorder'] @entity2438 :: ('MESH:D001321', 'Disease') :: ['autism'] @entity72 :: ('MESH:D002659', 'Disease') :: ['autism spectrum disorder', 'autism spectrum disorders'] @entity6038 :: ('MESH:D011218', 'Disease') :: ['Prader-Willi/Angelman syndrome']
@entity2438 :: (MESH:D001321,Disease) :: ['autistic spectrum disorders']
