Chromosome 8, Mosaic Trisomy
Mosaic trisomy 8
Type of disease: Rare conditions
Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the absence of serious problems, life expectancy is normal. Complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Mosaic trisomy 8 is the result of a random error in the egg or sperm. Diagnosis is based on karyotype analysis. Mosaic trisomy 8 almost always occurs in individuals with no family history of the condition. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.