This seminar extends the basic information about cytogenetics taught during the compulsory biology seminar in the first year. After a brief summary of the historical milestones in the cytogenetic field and an overview of the use of cytogenetic methods in present medicine, relevant examples from the areas of prenatal, postnatal and cancer cytogenetics are discussed.
Literature
Last update: Mgr. Martina Buriánková (16.05.2018)
I. D. Young: Medical genetics, Oxford University Press, 2010.
D. E. Rooney: Human Cytogenetics - Constitutional Analysis - Malignancy and Acquired Abnormalities, Oxford University Press, 2001.
J. L. Huret et al.: Atlas of Genetics and Cytogenetics in Oncology and Haematology [online]. http://atlasgeneticsoncology.org/
Syllabus
Last update: Mgr. Martina Buriánková (16.05.2018)
Morgan's fly room; Tjio and Levan – the correct number of chromosomes in humans; Lejeune and Jacobs - supernumerary copy of chromosome 21 in Down syndrome patients; Nowell and Hungerford – Philadelphia chromosome and leukemia; methodology of chromosome karyotyping; G and R banding; FISH and CGH methods; Denver and Paris cytogenetic nomenclature; ISCN and common chromosomal abnormalities; amniocentesis and prenatal screening of chromosomal abnormalities; chorionic villi sampling; microdeletion and microduplication syndromes; oncocytogenetics; the story of Gleevec; biological therapy in cancer.
