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GENATLAS PHENOTYPE
last update : 26/07/2006
Symbol DEL10Q22
Location 10q22.3
Name chromosome 10q22 interstitial deletions
Corresponding gene C10orf11
Main clinical features
  • muscular hypotonia, developmental delay, growth retardation and minor facial anomalies
  • deletions extending to 10q23 are associated with behavioral and neurodevelopmental abnormalities, including cognitive impairment, autism, hyperactivity, and possibly psychiatric disorders
    • Genetic determination chromosomal
    Prevalence very rare
    Related entries DEL10Q23, MCAUTS
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   three overlapping interstitial deletions 3.2 to7.8Mb in size and a balanced translocation disrupting C10orf11
    Remark(s) haploinsufficiency of C10orf11 may contribute to the cognitive defects in 10q22 deletion patients (Tzschach 2010)
    Genotype/Phenotype correlations deletions encompassing PTEN and/or BMPR1A may present juvenile polyps and macrocephaly (see DEL10Q23)