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Learn About Mosaic Trisomy 8

What is the definition of Mosaic Trisomy 8?
Mosaic trisomy 8 is a chromosomal abnormality that can affect many parts of the body. In individuals with Mosaic trisomy 8, some of the body's cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary, but may include distinctive facial features; intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm). Diagnosis may be based on analysis of chromosomes via genetic testing, such as karyotype.
What are the alternative names for Mosaic Trisomy 8?
  • Mosaic trisomy 8
  • Mosaic trisomy chromosome 8
  • Trisomy 8 mosaicism
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center