Recombinant chromosome 8 syndrome
Other Names for this Disease
- Rec8 syndrome
- San Luis Valley recombinant chromosome 8 syndrome
- San Luis Valley syndrome
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.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
Last updated: 4/15/2011
- Recombinant 8 syndrome. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/recombinant-8-syndrome. Accessed 11/1/2010.
- Genetics Home Reference (GHR) contains information on Recombinant chromosome 8 syndrome. This website is maintained by the National Library of Medicine.
- 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.
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