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GENATLAS PHENOTYPE
last update : 26-06-2018
Symbol DEL22Q13
Location 22q13.3
Name chromosome 22q13 subtelomeric deletion syndrome
Other name(s) 22q13 monosomy, monosomy 22qter, Phelan-McDermid syndrome
Corresponding gene SHANK3
Other symbol(s) del 22qter, r(22), RG22
Main clinical features
  • normal or accelerated growth, moderate to severe developmental delay, mild to moderate hypotonia, absent or delayed speech, neurosensory deafness, behavioural disturbances of the autistic spectrum and a mild facial dysmorphism with a pointed chin and prominent dysplastic ears
  • normal growth is the rule, while short stature, tall stature, microcephaly, and
    • especially macrocephaly may be observed more frequently than in the general population. PMID: 21834045
    Genetic determination chromosomal
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome with haploinsufficiency of SHANK3 as the major causal factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency variable size from 95 kb to 8.5 Mb, encompassing SHANK3,or with a breakpoint within it
      ring   with deletion of SHANK3
      translocation haploinsufficiency unbalanced translocation with der(22), familial or de novo, may be cryptic
      deletion haploinsufficiency interstitial deletions non-encompassing SHANK3, with similar but variable phenotype
    Remark(s) genes other than SHANK3 could have major effects on cognitive and language development
    Genotype/Phenotype correlations no known relationship between the clinical features and the deletion size