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GENATLAS PHENOTYPE
last update : 18/07/07
Symbol DUP17Q21
Location 17q21.31
Name chromosome 17q21 microduplication syndrome
Corresponding gene MAPT , CRHR1
Main clinical features
  • normal to mild mental retardation
  • poor social interaction
  • other features variable
  • variable penetrance and expressivity
    • Genetic determination chromosomal
    genomic disorder
    Prevalence 5 patients described
    Related entries DEL17Q21
    Function/system disorder mental retardation
    multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   reciprocal of the 17q21.3 microdeletion, derived from NAHR,with a minimal critical region of 485kb
    Remark(s)
    Genotype/Phenotype correlations
  • severe psychomotor developmental delay, facial dysmorphism, microcephaly, abnormal digits and hirsutism in the first described patient