Basic cytogenetics for office practice

Abstract

There is a wide range of clinical problems, from the relatively common to the extremely rare, that result from alterations in the chromosome complement. These numerical and structural abnormalities of the chromosomes can be detected readily by cell culture and analysis in the cytogenetics laboratory, and the chromosome complement is defined by means of a simple nomenclature. The family physician can expect to see patients with potential chromosome abnormalities from infancy to adulthood and may request that the appropriate cytogenetic investigation be undertaken. The diagnosis of chromosome disorders allows more accurate patient counselling and improved patient care.