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last update : 07-07-2020
Symbol DEL6QP
Location 6q14.1-q16.3
Name chromosome 6q proximal deletion
Other name(s) proximal 6q monosomy
Corresponding gene SIM1 , MRAP2
Main clinical features
  • Prader-Willi-like phenotype
  • obesity, hypotonia, short hands and feet, skull and eye/vision anomalies
  • hyperphagia, global developmental delay,
  • autistic-like behavior, broad-based gait and cardiac abnormalities in some patients
  • a similar phenotype was observed in 2 patients with a 4.2-Mb common microdeletion at 6q14.1-q15 not including SIM1(PMID: 21045960)).
  • 12 individuals with overlapping, 200-kb to 16.4-Mb interstitial deletions within 6q15q22.33 improving delineation of critical regions PMID: 22218741
  • Genetic determination chromosomal
    Prevalence less than 40 cases reported
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency interstitial deletion
      translocation haploinsufficiency One case of translocation interrupting SIM1
    Remark(s) shortest region of overlap of 4.1 Mb in 6q16.1q16.2 with candidate genes SIM1 for obesity, GRIK2 for autistic-like behavior, POPDC3 for heart defects and MCHR2 for energy metabolism
    Genotype/Phenotype correlations a 10 Mb interstitial deletion of region 6q22.31q23.1 has been observed in a phenotypically normal woman; duplication 6q16.1q21 associated with very mild phenotypic effect (PMID: 20954245))