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Genetic and Rare Diseases Information Center (GARD)

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Recombinant chromosome 8 syndrome

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

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013