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References OMIM Gene GeneReviews HGMD HGNC
last update : 8/02/2006
Symbol DUP15QP
Location 15q11.2-q12
Name chromosome 15 interstitial duplication involving the Prader-Willi/Angelman critical region
Corresponding gene UBE3A , SNRPN , GABRB3
Main clinical features
  • variable degrees of intellectual impairments and motor coordination problems
  • autism spectrum disorders in some but not all patients
  • Genetic determination chromosomal
    genomic disorder
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Remark(s) duplications proximal to the PWACR have no apparent clinical significance
    Genotype/Phenotype correlations paternally inherited duplications were significantly less likely to give rise to phenotypic effects suggesting that maternally active genes are likely implicated in developmental impairment ; brain expression studies suggest epigenetic mechanisms impact outcome and clinical heterogeneity of 15q11q13 duplication syndromes