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GENATLAS PHENOTYPE
last update : 11-07-2012
Symbol DEL17Q23
Location 17q23.2
Name chromosome 17q23.2 microdeletion
Corresponding gene TBX2 , TBX4
Other symbol(s) DUP17Q23
Main clinical features
  • mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, and hand, foot, and limb abnormalities, PMID: 20206336
  • sensorineural hearing loss in 5 of the 10 cases, PMID: 22052739
    • Genetic determination chromosomal
    genomic disorder
    Prevalence 10 individuals
    Function/system disorder cardiovascular
    osteo-articular
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene deletion syndrome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency approximately 2.2 Mb in size and flanked by large segmental duplications
    Remark(s)
    Genotype/Phenotype correlations reciprocal 17q23.1q23.2 microduplication is a rare cause of familial isolated clubfoot PMID: 20598276 , PMID: 22678995