Chromosomal abnormalities

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Chromosomal Abnormalities

Chromosomal abnormalities (pronunciation: kroh-muh-soh-muhl ab-nor-mal-uh-tees) are irregularities in the number or structure of chromosomes in an organism's cells.

Etymology

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

Definition

Chromosomal abnormalities refer to changes in the normal sequence of DNA within a chromosome, or changes in the number of chromosomes. These changes can lead to health problems, developmental issues, and reproductive difficulties.

Types of Chromosomal Abnormalities

There are several types of chromosomal abnormalities, including:

  • Aneuploidy: This is a condition in which an organism has one or more extra or missing chromosomes.
  • Polyploidy: This is a condition in which an organism has more than two complete sets of chromosomes.
  • Structural abnormalities: These occur when the physical structure of a chromosome is altered. This can include deletions, duplications, inversions, and translocations.

Causes

Chromosomal abnormalities can be caused by a variety of factors, including errors in cell division, exposure to radiation or certain chemicals, and advanced parental age.

Diagnosis

Diagnosis of chromosomal abnormalities often involves genetic testing, including karyotyping and fluorescence in situ hybridization (FISH).

Treatment

Treatment for chromosomal abnormalities varies depending on the specific abnormality and its effects. It can include medical intervention, therapy, and counseling.

Related Terms

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