What Is Cytogenetics Study?

The study of chromosomes, which are long strands of DNA and protein that contain most of the genetic information in a cell. Cytogenetics involves testing samples of tissue, blood, or bone marrow in a laboratory to look for changes in chromosomes, including broken, missing, rearranged, or extra chromosomes.

What can cytogenetics detect?

Cytogenetic testing is the examination of chromosomes to determine chromosome abnormalities such as aneuploidy and structural abnormalities. A normal human cell contains 23 pairs of chromosomes, including 22 pairs of autosomes and a pair of sex chromosomes (XX or XY).

Why is it important to study cytogenetics?

Cytogenetics plays a key role in the detection of chromosomal abnormalities associated with malignancies, as well as the characterization of new alterations that allow more research and increase knowledge about the genetic aspects of these diseases.