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Diseases

Genetic and Rare Diseases Information Center (GARD)

Koolen de Vries syndrome


Other Names for this Disease
  • 17q21.31 deletion syndrome
  • Monosomy 17q21.31
  • Microdeletion 17q21.31 syndrome
  • Chromosome 17q21.31 microdeletion syndrome
  • 17q21.31 microdeletion syndrome
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Tests & Diagnosis

Newline Maker

How is 17q21.31 microdeletion syndrome diagnosed?

17q21.31 microdeletion syndrome is diagnosed in individuals who have a deletion of 500,000 to 650,000 DNA building blocks (base pairs) at chromosome 17q21.31. The diagnosis can be made by various genetic testing methods, including FISH and array CGH. This condition cannot be diagnosed by traditional chromosome tests (karyotype) that look at chromosome banding patterns under the microscope because the deletion is too small to be detected.[1]
Last updated: 5/4/2010

References
  1. Koolen DA, de Vries BBA. 17q21.31 Microdeletion Syndrome. GeneReviews. January 26, 2010; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mdel17q21_31. Accessed 5/4/2010.


Testing

  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • 17q21.31 deletion syndrome
  • Monosomy 17q21.31
  • Microdeletion 17q21.31 syndrome
  • Chromosome 17q21.31 microdeletion syndrome
  • 17q21.31 microdeletion 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.