Recombinant chromosome 8 syndrome

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

Overview

Type of disease: Rare conditions

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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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