Cytogenetic techniques in current biomedical research. Part II: chromosomal rearrangements

Abstract

Mutations represent a natural mechanism for adaptation of species to changing environmental conditions. Chromosomal rearrangements play a pivotal role in the evolution, as evidenced by the comparison of human and non-human primate karyotypes, and have diverse clinical consequences. In most cases chromosomal aberrations are compatible with life, yet their carriers might show a variety of mental and physiological abnormalities and malformations. Albeit chromosomal rearrangements often do not affect the health and reproductive ability, offspring of their carriers still have a high risk of inherited disorders. Most notably, chromosomal aberrations strongly correlate with cancer risk. When unbalanced, chromosomal abnormalities are associated with reduced life expectancy and reproductive potential. In this lecture, we analyse the mechanisms of chromosomal aberrations, review their diversity, and describe significant clinical consequences such as inherited syndromes which are illustrated with images of patients' karyotypes. The lecture is primarily aimed at biomedical students, researchers and physicians who often have an unmet need to analyse and interpret the results of cytogenetic analyses.