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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Recombinant chromosome 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. Many children with recombinant chromosome 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant chromosome 8 syndrome is caused by a rearrangement of chromosome 8 that results in a missing piece of the short (p) arm and an extra piece of the long (q) arm. Most affected individuals have at least one parent with a change in chromosome 8 called an inversion.[1]
Last updated: 4/15/2011

References

  1. Recombinant 8 syndrome. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/recombinant-8-syndrome. Accessed 11/1/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Recombinant chromosome 8 syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Recombinant chromosome 8 syndrome. Click on the link to view a sample search on this topic.
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.