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GENATLAS PHENOTYPE
last update : 11-05-2011
Symbol DEL2Q32
Location 2q33.1
Name chromosome 2q interstitial deletion, including 2q33.1
Other name(s) 2q33q32 microdeletion syndrome
Corresponding gene SATB2
Other symbol(s) DEL2Q33.1
Main clinical features
  • pre and postnatal growth retardation, distinct facial dysmorphism (long face and down-slanting palpebral fissures), thin and sparse curly hair, fair built, micrognathia, cleft or high palate, teeth abnormalities, small mouth, relative macroglossia, persistent feeding difficulties, inguinal hernia, broad based gait
  • specific behavioral phenotype with hyperactivity, chaotic behaviour, generally ‘happy’ personalities, but with bouts of anxiety or aggression
  • orthopaedic problems
    • PMID: 21343628
    Genetic determination chromosomal
    Prevalence at least 20 cases reported
    Related entries WWS
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome with many genes potentially involved;
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   various size
      deletion   seven deletions ranging in size from 35 kb to 10.4 Mb, with the smallest deletion entirely within the SATB2 gene PMID 21343628
    Remark(s) cleft or high palate likely result of hemizygosity of SATB2 gene
    Genotype/Phenotype correlations deletion of 2q32 has been also associated with wrinkly skin syndrome (WWS)(Azuri 1999); ectodermal dysplasia-like syndrome including thin skin, oligodontia, dysplastic teeth, and sparse hair may be part of the del 2q32 syndrome (Rifai 2010);