What is Cytogenetic and its Importance?

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

Cytogenetic technologists are laboratory expert who study defects of chromosomes in cells, and their relationship to disease and human development. These include mutation, fertility problems, and blood dyscrasia. In some birth defects, such as down syndrome, cytogenetics revealed the nature of the chromosomal defect: a "simple" trisomy.



Importance:

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

Cytogenetic diagnosis can be used to detect chromosome abnormalities responsible for birth defects and developmental problems. Chromosome abnormalities are observed in about four to eight percent of children with congenital abnormality, as well as at least 13 percent of those with congenital heart defects.


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