Monosomy

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Monosomy (pronounced: mo·no·so·my, /mɒnˈɒsəmi/) is a type of chromosomal abnormality in which there is a loss of one chromosome from the normal diploid number.

Etymology

The term "Monosomy" is derived from the Greek words "monos" meaning "single" and "soma" meaning "body". It refers to the presence of a single copy of a chromosome instead of the usual pair.

Types of Monosomy

There are two types of monosomy: Full Monosomy and Partial Monosomy. In full monosomy, an entire chromosome is missing. In partial monosomy, only a portion of the chromosome is missing.

Causes

Monosomy is usually caused by nondisjunction, an error in cell division that results in a cell with an abnormal number of chromosomes.

Symptoms and Diagnosis

Symptoms of monosomy vary depending on which chromosome is missing and can range from mild to severe. Diagnosis is typically made through genetic testing, including karyotyping and fluorescence in situ hybridization (FISH).

Treatment

There is no cure for monosomy, but treatment can help manage symptoms. This may include physical therapy, educational support, and other interventions.

Related Terms

  • Trisomy: A chromosomal disorder characterized by an additional chromosome.
  • Chromosome: A thread-like structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
  • Genetic disorder: A disease caused by abnormalities in an individual's genetic material.

See Also

External links

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