Recombinant chromosome 8 syndrome

Common Name(s)

Recombinant chromosome 8 syndrome, Rec 8 Syndrome, Recombinant 8 Syndrome, San Luis Valley Syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Recombinant chromosome 8 syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Recombinant chromosome 8 syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.
 

Author(s): S L Graw, T Sample, J Bleskan, E Sujansky, D Patterson

Journal: Am. J. Hum. Genet.. 2000 Mar;66(3):1138-44.

 

Rec8 syndrome (also known as "recombinant 8 syndrome" and "San Luis Valley syndrome") is a chromosomal disorder found in individuals of Hispanic descent with ancestry from the San Luis Valley of southern Colorado and northern New Mexico. Affected individuals typically have mental ...

Last Updated: 20 Apr 2000

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The terms "Recombinant chromosome 8 syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.
 

Status: Recruiting

Condition Summary: Short Stature, Idiopathic; Infant, Small for Gestational Age; Growth Hormone Deficiency; Chronic Renal Failure; Turner Syndrome

 

Last Updated: 17 Jan 2017

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