The study of chromosomes, the visible carriers of DNA, the hereditary material. Cytogenetics is a fusion science due to joining of cytology (the study of cells) with genetics (the study of inherited variation).
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The branch of genetics concerned with the structure and function of the cell, especially the chromosomes.C. arose as a fusion of 19th century cytology and 20th century genetics, which came into being in 1903 with the articulation of the chromosome theory of inheritance. The developing 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 c. involves the microscopic study of chromosomes that have been fixed in mitosis and stained with various agents to delineate characteristic bands. DNA probes can be applied to locate specific gene sequences. Karyotyping is the arrangement of photographs of stained chromosomes in a standard format. Cytogenetic techniques are used to test for inborn errors of metabolism and genomic aberrations such as Down syndrome and to determine sex in cases where anatomy is inconclusive.

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cy·to·ge·net·ics -jə-'net-iks n pl but sing or pl in constr a branch of biology that deals with the study of heredity and variation by the methods of both cytology and genetics
cy·to·ge·net·ic -jə-'net-ik or cy·to·ge·net·i·cal -i-kəl adj
cy·to·ge·net·i·cal·ly -i-k(ə-)lē adv

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a science that links the study of inheritance (genetics) with that of cells (cytology); it is concerned mainly with the study of the chromosome, especially their origin, structure, and functions.

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cy·to·ge·net·ics (si″to-jə-netґiks) the branch of genetics devoted to cellular constituents concerned in heredity, i.e., chromosomes.

Medical dictionary. 2011.

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