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Genetic and Rare Diseases Information Center (GARD)

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17q23.1q23.2 microdeletion syndrome

Other Names for this Disease
  • 17q23.1-q23.2 microdeletion syndrome
  • Chromosome 17q23.1-q23.2 deletion syndrome
  • Del(17)(q23.1q23.2)
  • Monosomy 17q23.1-q23.2
  • Monosomy 17q23.1q23.2
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What causes 17q23.2q23.2 microdeletion syndrome?

The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition.[1][2]  
Last updated: 1/3/2013

  1. Morichon-Delvallez N. 17q23.1q23.2 microdeletion syndrome. Orphanet. 2011; Accessed 1/2/2013.
  2. Ballif et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12;86(3):454-61. .