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Last update: HABET (31.01.2014)
Syllabus - Examination Methods in Medical Genetics
Topics:
Brief overview of formal genetics and cytogenetics - genome and phenome, genotype and phenotype, chromosomes and chromosomal aberrations Introduction to medical genetics, key discoveries and milestones of medical genetics; medical genetics in the post-genomic era Genetic counseling unit, its basic activities and cooperation with other clinical departments, ethical and legal issues of genetic counseling, current problems of medical genetics - seminar with a physician - specialist in genetic counseling From symptoms to syndromes - how to examine a patient and indicate cytogenetic or molecular genetic examination; interesting case studies in medical genetics Medical genetic lab, its equipment, the most serious health hazards Diagnostic tools and basic techniques in medical cytogenetics, banding methods, karyotyping Modern molecular cytogenetic methods (FISH, MLPA, arrayCGH), their application in clinical genetics Mosaic findings in clinical genetics - their consequences, diagnostic possibilities and limitations, and interpretation problems (e.g. on mosaic forms of Turner's syndrome) Examination methods in oncogenetics and oncocytogenetics The most important information sources in medical genetics and cytogenetics How to publish scientific reports in medical genetics
Practical activities:
Observation and determination of human chromosomes Seeing a molecular cytogenetic lab - demonstration of fluorescent microscope Demonstration of the basic FISH and M-FISH analysis
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