Publication at Second Faculty of Medicine |
2002
Abstract
The article summarizes the basic knowledge about chromosomal examination methods and their importance in clinical genetics. At the same time, it draws attention to some of the most common syndromes caused by changes in the number or structure of chromosomes (ie numerical and structural chromosomal aberrations).
For classical chromosomal examination, the most suitable material is peripheral blood lymphocytes, by culturing which we obtain metaiasis chromosomes. We then process them by various methods, of which the best and methodologically least demanding visualization is provided by G-banding (short-term action of trypsin followed by staining with Giemsa-Romanowski solution).