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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-08-2010
Symbol DEL2Q31
Location 2q31.1
Name chromosome 2q interstitial deletion, including 2q31.1
Other name(s) 2q31 monosomy
Corresponding gene HOXD@ , CHN1 , DLX1 , DLX2 , SP3 , EVX2
Other symbol(s) MDLGS, DUP2Q31
Main clinical features
  • limb abnormalities ranging from mild digital abnormalities including syndactyly and brachysyndactyly to more severe malformations such as split hand, split foot or monodactyly
  • abnormalities of other organ systems such as ocular, genital or cardiac defects
  • microcephaly, developmental delay, mild facial dysmorphology, scoliosis, growth retardation have also been reported
  • Genetic determination chromosomal
    Function/system disorder osteo-articular
    Type malformation
    Gene product
    Name deletion of one or several regulatory elements located far upstream of the HOXD cluster is likely implicated
    Gene mutationChromosome rearrangementEffectComments
      deletion   not always including HOXD cluster
      deletion   a 3.4 Mb deletion including the entire HOXD gene cluster in a three-generation family presenting duplication of great toes with clinodactyly
    Remark(s) duplication of the HOXD cluster locus associated with mesomelic dysplasia, Kantaputra type (see MMDK)PMID: 20648051 , or syndactyly and nystagmus, PMID: 21654727
    Genotype/Phenotype correlations hemizygosity for one or more genes mapping proximal to the HOXD cluster may contribute to the extremely severe limb defects seen in two unrelated patients with overlapping deletions del(2)(q24.2q31) and del(2)(q31.1q31.2) ; a deletion of 2Mb at 2q31.1 not including the HOXD cluster was present in a patient with symphalangism, microcephaly and mental retardation