Polysomy (Noun)
Meaning
Congenital defect of having one or more extra chromosomes in somatic cells.
Classification
Nouns denoting natural processes.
Examples
- Down syndrome is an example of partial polysomy since an extra copy of chromosome 21 results in a failure of normal development.
- Polysomy is often asymptomatic and may only be discovered when a child is diagnosed with a secondary condition related to chromosomal abnormalities.
- Klinefelter syndrome is a sex chromosome polysomy resulting from an extra X chromosome in males, characterized by small testes, low testosterone levels, and infertility.
- Polysomy can occur in any cell line, including germ cells, and increase the risk of subsequent generations inheriting the condition.
- Complete polysomy, having one or more extra complete sets of chromosomes, is usually lethal, except in rare cases of mosaic individuals.