Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

Newline Maker

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

References
  1. Morichon-Delvallez N. 17q23.1q23.2 microdeletion syndrome. Orphanet. 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261279. 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. .


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.