What is cytogenetics?

Cytogenetics is the study of structure and function of chromosomes, usually in metaphase or prophase stage of mitosis.

In humans, each cell contains 46 chromosomes, and these can be arranged in 23 pairs to form a karyotype. One chromosome of a pair is paternal and the other of maternal origin. Chromosome abnormalities can be the major causes of mental retardation, multiple malformations, cancer, infertility and spontaneous abortion.

There are two major groups of chromosome abnormalities, numerical changes in the karyotype (such as Down syndrome) and structural rearrangements of the karyotype. Interphase cells can also be examined with the introduction of Fluorescence In Situ Hybridisation (FISH) probes as a rapid screening test. Very small structural rearrangements (eg. deletions, duplications or translocations) can be detected using FISH probes to interphase cells or chromosomes.

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