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Learn About Chromosome 20 Trisomy

What is the definition of Chromosome 20 Trisomy?
Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or all of of his/her cells. The presence of an extra copy of only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of Chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.
What are the alternative names for Chromosome 20 Trisomy?
  • Chromosome 20 trisomy
  • Mosaic trisomy 20
  • Trisomy 20
  • Trisomy 20 mosaicism
  • Trisomy chromosome 20
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center