Génétique

Europ

Présentation Programme

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Clinical cytogenetics: Basics: Frequency of chromosome disorders, Cell cycle, mitosis and meiosis, gametogenesis, Heterochromatic and euchromatic variants, Numerical chromosome abnormalities, 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, Mosaicism, Chimaeras, ISCN 2013. Clinical: Phenotype of common autosomal and gonosomal aneuploidies, Chromosome abnormalities in recurrent abortions, Cytogenetics and infertility, 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, noninvasive methods using fetal nucleic acids and fetal cells in maternal blood, Preimplantation diagnosis. Cancer Cytogenetics: Molecular approach to cancer cytogenetics, Predisposition to cancer, Chromosome instability syndromes, Chromosome mutagenesis, Solid tumors, Clinical application in onco hematology. Other: Genome architecture, Structure of chromatin, Structure of metaphase chromosomes, Mechanisms of chromosome aberrations, Origin of aneuploidy, Evolution and plasticity of the human genome, Animal cytogenetics, Plant cytogenetics.