Summary:
Cytogenetics is science about structure, function and chromosome evolution. Cytogenetics is also involved in the study
of behavior of chromosomes during division of somatic and germ cells. Clinical cytogenetics is following structural and
numerical chromosomal changes which can be either inborn i.e. constitutional or acquired. Acquired chromosomal
changes are present in malignant tumors.
Cytogenetic examination is recommended in patients with birth defects, in prenatal diagnostics, in cases of assisted
reproduction to determine chromosomal complement of foetus etc. In oncocytogenetic laboratories specific and non-
-specific chromosomal rearrangements are studied and their determination is improving diagnostic workup and precise
diagnosis and prognosis of patients with different malignancies. We are presenting the overview of classical and
molecular cytogenetic methods, frequency of numerical and structural chromosomal changes in population and the
most frequent and specific acquired aberrations of malignant tumors.
Key words:
human and medical cytogenetics, chromosomes, fluorescence in situ hybridization, comparative genomic
hybridization.
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