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GENATLAS PHENOTYPE

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
	epigenetic
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