This approximately 70 hour theoretical part of the course attempts to cover the field of cytogenetics in the broadest sense. The topics can be divided into the following categories:
Cell culture techniques; Chromosome staining methods (Q-, G-, C-, R- banding and high resolution banding); Methods and principles of Fluorescence In Situ Hybridization (FISH) and MFISH; New methods in cytogenetics (QPCR, MLPA, QMPSF). Line Array CGH; Production and use of molecular probes; Laboratory quality assessment.
Basics: Frequency of chromosome disorders; Cell cycle, mitosis and meiosis, gametogenesis; Heterochromatic and euchromatic variants; ISCN 2013; Numerical chromosome abnormalities; Origin of aneuploidy; Mosaicism; Chimaeras; Origin and consequences of structural abnormalities: translocations, inversions, insertions, deletions, rings, markers; Risk assessment for balanced abnormalities; X inactivation, numerical and structural abnormalities of the X and the Y; Mechanism of formation of chromosome abnormalities.
Clinical: Phenotype of common autosomal and gonosomal aneuploidies; Chromosome abnormalities in recurrent abortions; Microdeletion syndromes; Uniparental disomy and its consequences; Genomic imprinting; Genetic counselling and ethical issues in cytogenetics.
Prenatal diagnosis: Indications, methods and interpretation; Risk assessment for chromosomal abnormalities; Non-invasive methods using foetal nucleic acids and foetal cells in maternal blood; Pre-implantation diagnosis.
Cancer Cytogenetics: Molecular approach to cancer cytogenetics; Predisposition to cancer, Chromosome insta-bility syndromes; Chromosome mutagenesis; Solid tumors; Clinical application in onco-haematology.
Genome architecture; Structure of chromatin; Structure of metaphase chromosomes, Mechanisms of chromosome abberations; Evolution and plasticity of the human genome; Animal cytogenetics; Plant cytogenetics.
The students will have an opportunity to evaluate the course.