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Diseases

Genetic and Rare Diseases Information Center (GARD)

17q23.1q23.2 microdeletion syndrome


Other Names for this Disease
  • 17q23.1-q23.2 microdeletion syndrome
  • Del(17)(q23.1q23.2)
  • Monosomy 17q23.1-q23.2
  • Monosomy 17q23.1q23.2
  • Chromosome 17q23.1-q23.2 deletion syndrome
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Tests & Diagnosis

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How is 17q23.1q23.2 microdeletion syndrome diagnosed?

The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).[1]
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.


Testing

  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • 17q23.1-q23.2 microdeletion syndrome
  • Del(17)(q23.1q23.2)
  • Monosomy 17q23.1-q23.2
  • Monosomy 17q23.1q23.2
  • Chromosome 17q23.1-q23.2 deletion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.