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GENATLAS PHENOTYPE
last update : 23-01-2018
Symbol DUP15Q13
Location 15q13.3
Name chromosome 15q13.3 duplications
Corresponding gene CHRNA7
Main clinical features small microduplications involving CHRNA7 might be associated with developmental delay/mental retardation, muscular hypotonia, and a variety of neuropsychiatric disorders. However, they are of uncertain clinical significance at present. Nevertheless, if they prove to have a pathological effects, their high frequency could make them a common risk factor for many neurobehavioral disorders (Szafranski,2010).
Genetic determination chromosomal
Related entries DEL15Q13
Function/system disorder psychiatry disorder
Type susceptibility factor
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
  duplication   approximately 1.6-Mb microduplications and smaller 350-680-kb microduplications involving the CHRNA7 gene
Remark(s) associated potential for increased dosage of the CHRNA7-encoded alpha 7 subunit of nicotinic acetylcholine receptors
Genotype/Phenotype correlations reciprocal recurrent deletions between BP4 and BP5 are associated with MR, autism and epilepsia