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GENATLAS PHENOTYPE
last update : 29/08/2006
Symbol DUP22Q11
Location 22q11.2
Name chromosome 22q11.2 microduplication or triplication syndrome
Other name(s) 22q11 trisomy
Main clinical features
  • marked clinical variability both inter- and intrafamilial, including the presence of a complete normal phenotype and the presence of high intellectual possibilities, . usually ranging from mild learning difficulties to severe congenital malformations leading to early death, may be due to ascertainment bias
    • Genetic determination chromosomal
    genomic disorder
    Prevalence 63 patients described pertaining to 35 families
    Related entries related phenotypes : partially overlapping duplications observed in cat eye syndrome (CES) and der(22)syndrome
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication over-expression duplications range from ~3Mb (most common) to ~4Mb and ~6Mb within the 22q11.21-11.23 band
    Remark(s) usually detected during testing for the 22q11/DGS deletion
    Genotype/Phenotype correlations no correlation between duplication size and clinical severity; future reports are needed to answer the question whether microduplication could be a non-pathogenic polymorphism or whether it is a real syndrome with a very large clinical variability and reduced penetrance