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​Cytogenetics

updated: March 24, 2025

Definition

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Cytogenetics is a branch of biology focused on the study of chromosomes and their inheritance, especially as applied to medical genetics. Chromosomes are microscopic structures containing DNA that reside within the nucleus of a cell. During cell division, these structures become condensed and are visible with a microscope. Special staining techniques can be used to assess the number and structure of a person’s chromosomes as part of diagnostic testing. The number and/or structure of chromosomes is known to be altered in certain genetic diseases.

 Cytogenics


Narration

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Cytogenetics. Cytogenetics is the study of chromosomes in any species. Chromosomes are structures of DNA strands and protein that contain most of the genetic information in a cell. We can visualize chromosomes in metaphase during the cell cycle. Cytogenetics refers to the study of tissue, blood, blood marrow, or culture cells in a laboratory, using banding or manipulating techniques to look for changes in the chromosomes, including broken, missing, rearranged, or extra chromosomes. Changes in the chromosomes may be a sign of a genetic disease or condition. Cytogenetics may be used to help diagnose, plan a treatment, or find out how well a treatment is working.

Amalia Dutra
Amalia Dutra, Ph.D.

Director

Cytogenetics and Microscopy Core