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Genetic and Rare Diseases Information Center (GARD)

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Koolen de Vries syndrome


Other Names for this Disease

  • 17q21.31 deletion syndrome
  • 17q21.31 microdeletion syndrome
  • Chromosome 17q21.31 microdeletion syndrome
  • Microdeletion 17q21.31 syndrome
  • Monosomy 17q21.31
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My daughter has been diagnosed with 17q21.31 microdeletion syndrome, and I would like more information on this condition.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Koolen de Vries syndrome?

Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delayintellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.[1]
Last updated: 5/4/2010

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.[2]
Last updated: 5/4/2010

Where can I find addtional information on 17q21.31 microdeletion syndrome?

You can find more information about 17q21.31 microdeletion syndrome from Genetics Home Reference, the U.S National Library of Medicine's Web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions. This resource also provides descriptions of genetic concepts, a glossary of genetic terms, and links to other genetic resources. 

A fact sheet on 17q21.31 microdeletion syndrome is also available from an organization in the United Kingdom called Unique.

Unique– Rare Chromosome Disorder Support Group
PO Box 2189
Caterham
Surrey CR3 5GN
United Kingdom
Telephone:  440 1883 330766
E-mail:  info@rarechromo.org
Web site:  http://www.rarechromo.org

Visit our Web page on 17q21.31 microdeletion syndrome for additional resources related to this condition.
Last updated: 5/4/2010

References
Other Names for this Disease
  • 17q21.31 deletion syndrome
  • 17q21.31 microdeletion syndrome
  • Chromosome 17q21.31 microdeletion syndrome
  • Microdeletion 17q21.31 syndrome
  • Monosomy 17q21.31
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.