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Diseases

Genetic and Rare Diseases Information Center (GARD)

Recombinant chromosome 8 syndrome


Other Names for this Disease
  • Rec8 syndrome
  • San Luis Valley recombinant chromosome 8 syndrome
  • San Luis Valley 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.

Your Question

I am a carrier for recombinant chromosome 8 syndrome. Should my children have a blood test to see if they are also carriers?

Our Answer

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

Should my children be tested to see if they are carriers of recombinant chromosome 8 syndrome?

We recommend that you consult with a genetics professional to discuss your children's options regarding carrier testing for recombinant chromosome 8 syndrome.

Carriers of recombinant chromosome 8 syndrome have a change in chromosome 8 called an inversion. An inversion involves the breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. Genetic material is typically not lost as a result of this inversion in chromosome 8, so people usually do not have any related health problems. However, genetic material can be lost or duplicated when inversions are being passed to the next generation. People with this chromosome 8 inversion are at of risk having a child with recombinant chromosome 8 syndrome.[1]
Last updated: 11/2/2010

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

References
Other Names for this Disease
  • Rec8 syndrome
  • San Luis Valley recombinant chromosome 8 syndrome
  • San Luis Valley 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.