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GENATLAS PHENOTYPE
last update : 02/08/07
Symbol DUP11QP
Location 11q13.3
Name chromosome 11q proximal duplication
Other name(s) proximal trisomy 11q
Corresponding gene FGF3 , FGF4
Main clinical features
  • developmental delay
  • complex craniosynostoses
  • congenital heart defects
    • Genetic determination chromosomal
    Prevalence < 5 cases reported
    Function/system disorder mental retardation
    multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication over-expression overlapping region of less than 1.2Mb including genes FGF3 and FGF4
    Remark(s)