Chromosomal abnormality

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Chromosomal Abnormality

Chromosomal Abnormality (pronunciation: kroh-muh-soh-muhl ab-nor-mal-i-tee) is a genetic condition that occurs due to an alteration in the number or structure of chromosomes.

Etymology

The term "Chromosomal Abnormality" is derived from the Greek words "chroma" meaning color, "soma" meaning body, and the Latin word "abnormis" meaning departing from usual.

Definition

A Chromosomal Abnormality is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes.

Types

Chromosomal Abnormalities can be categorized into two types:

  • Numerical Abnormalities: When an individual is either missing one of the chromosomes from a pair or has more than two chromosomes instead of a pair.
  • Structural Abnormalities: When the chromosome's structure is altered. This can take several forms including deletions, duplications, translocations, inversions, and rings.

Causes

Chromosomal Abnormalities are typically caused by errors in cell division, specifically during meiosis or mitosis.

Diagnosis

Diagnosis of Chromosomal Abnormalities often involves genetic testing, including karyotyping and chromosomal microarray analysis.

Treatment

Treatment for Chromosomal Abnormalities varies depending on the specific condition and its severity. It often involves managing symptoms and providing supportive care.

Related Terms

External links

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