Definition - What does Cytogenetics mean?

Cytogenetics is the field of study relating to how chromosomes are structured and the way in which they function. Cytogenetics helps to detect and understand how changes in the chromosome structure result in genetic abnormalities or conditions.

FertilitySmarts explains Cytogenetics

Chromosome abnormalities can occur at any time, to any cell in the body. Abnormalities can develop in a cell of a mother’s egg or father’s sperm, in a stage of fetal development, or at any age after birth. These changes within the chromosome structure may cause a disruption in the body, leading to a wide range of conditions, diseases, or disorders. Alternatively, in some cases, the changes may cause no disruption. Cytogenetics leads and advances research on how and why this occurs.

Cytogenetics are also responsible for the cytogenetic analysis, called a karyotype. A cytogenetic analysis, also known as a chromosome analysis, examines the structure, pairing and order of the chromosomes to check for abnormalities. The test may be performed during pregnancy or after a child is born. During pregnancy the analysis can provide insight as to whether or not the pregnancy is at risk for any genetic issues. Alternatively, if a child is born with development issues or abnormalities, the analysis can help to diagnose and guide treatment options.

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