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last update : 13-03-2014
Symbol DEL8PP
Location 8p11.21
Name chromosome 8p proximal deletion
Corresponding gene FGFR1 , ANK1
Main clinical features
  • specific and complex phenotype including spherocytic anemia, dysmorphic features, genital hypoplasia and inconstant mental retardation
  • Genetic determination chromosomal
    Prevalence less than 3 cases reported
    Related entries KAL2, SPH2
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency interstitial deletion of about 10-15 Mb encompassing the ANK1 and FGFR1 genes
    Genotype/Phenotype correlations interstitial deletions that do not encompass the ANK1 gene are not associated with spherocytic anemia