| Definition |
identification of abnormal chromosomes in a cellular tissue sample; also the study of chromosomes, the visible carriers of DNA, the hereditary material. Researchers have found that leukemia cells often contain genetic defects known as translocations, inversions, deletions, and additions. Translocations are genetic errors that result when parts of two chromosomes are exchanged. Inversions are produced when part of a chromosome becomes inverted (upside down) and the order of its genetic material is reversed. Deletions occur when part of a chromosome is missing, and additions are caused by duplications of all or part of a chromosome. Cytogenetics is a fusion science due to joining of cytology (the study of cells) with genetics (the study of inherited variation).
The process of analyzing the number and shape of the chromosomes of cells. The individual, who prepares, examines and interprets the number and shape of chromosomes in cells is called a cytogeneticist. In addition to identifying chromosome alterations, the specific genes affected can be identified in some cases. These findings are very helpful in diagnosing specific types of leukemia, in determining treatment approaches, and in following the response to treatment.
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