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GENATLAS PHENOTYPE
last update : 10/05/2006
Symbol DUP7Q11
Location 7q11.23
Name chromosome 7q11.2 microduplication, reciprocal of the Williams-Beuren syndrome (WBS) deletion
Main clinical features
  • impairment in the same domains as with WBS: language, social relationships, visuospatial skills, but in opposite directions
  • mild mental retardation
  • seizures and/or abnormal neuronal migration <25 percent, autistic traits in some patients <50 percent
  • mild dysmorphism with prominent forehead in some patients, straight placement of the eyebrows, thin upper lip and in the older children, the high broad nose.
  • sometimes found in unaffected parents, suggesting incomplete penetrance
    • Genetic determination chromosomal
    genomic disorder
    Prevalence estimated 1: 13 000-20 000 ; 27 families described (Beunders 2010)
    Function/system disorder neurology
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome with about 24 genes deleted
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication over-expression 1.5 Mb duplication of 7q11.23 containing as many as 27 genes
      ring over-expression small supernumerary ring chromosome derived from proximal 7q
      other   1 case of triplication in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms (Beunders 2010)
    Remark(s) severe expressive-language delay could be related to cortical dysplasia of the left temporal lobe
    Genotype/Phenotype correlations duplications associated with small supernumerary ring chromosome are much larger and potentially accompanied by more severe phenotype