cytogenetics (sI´to-je-net´iks)

The branch of genetics concerned with the structure and function of the cell, especially the chromosomes.The field arose as a fusion of 19th century cytology and 20th century genetics (which properly began in 1903 with articulation of the chromosome theory of inheritance). Subsequently, the field concerned itself with detailing the behavior of chromosomes and their functional subunits-the genes-during reproduction, and with relating that behavior statistically to characteristics of the resulting cells or animals. Modern molecular cytogenetics involves the microscopic study of chromosomes that have been arranged as karyotypes. Individuals can be classified according to characteristic banding patterns that appear when the karyotypes are exposed to certain dyes. In addition, DNA probes may be applied to locate specific gene sequences. Cytogenetic techniques are used to test for inborn errors of metabolism, for disorders such as Down syndrome, and to determine sex in cases where anatomy is inconclusive.


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