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Genetic and Rare Diseases Information Center (GARD)

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Recombinant chromosome 8 syndrome


Other Names for this Disease
  • Duplication 8q/deletion 8p
  • Rec(8) syndrome
  • Rec8 syndrome
  • Recombinant 8 syndrome
  • San Luis Valley recombinant chromosome 8 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

  • Online Mendelian Inheritance in Man (OMIM) is a 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
  • Duplication 8q/deletion 8p
  • Rec(8) syndrome
  • Rec8 syndrome
  • Recombinant 8 syndrome
  • San Luis Valley recombinant chromosome 8 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.