Description

Chromosomal analysis is an increasingly important diagnostic procedure in numerous areas of clinical medicine that includes haematology, perinatology or obstetrics. Chromosomal disorders are viewed as a major category of genetic diseases, and sometimes the identification of abnormal chromosomes is not easily applicable. Just like the identification of the marker chromosome or the identification of the complex karyotypes is important in clinics for the evaluation of the patient prognosis as well as the treatment response, needless to say; fluorescence in situ hybridization (FISH) is the most suitable and rapid method in the above-mentioned situations. It gives chance to the rapid analysis of chromosomal aneuploidies in dividing and non-dividing cells. In this chapter, we will discuss the general principles of the chromosomal abnormalities and the molecular cytogenetic techniques that can help the identification of presence or absence of a particular DNA sequence or the evaluation of the number of organization of a chromosome or chromosomal region.

Chapter