Syllabus
History of medical genetics
Basic terms of medical genetics
Molecular basis of pathological genetic states
Types of Mendelian inheritance (AD,AR,GR,GD, mitochondrial inheritance)
Mendelian disorders
Laboratory methods of clinical cytogenetics
Laboratory methods of molecular genetics
Chromosomal based disorders
Multifactorial disorders
Birth defects and congenital disorders, teratogenic agents in pregnancy
Basic syndromology
Basic genetic conselling
Genetic prevention
Genetic testing
Prenatal screening and diagnosis
Ethical issues in medical genetics
Annotation
Classification of genetic disorders. Genealogic studies.
Monogenic and multifactorial types of inheritance. Congenital birth defects; aetiology, genetic risk.
Cytogenetic techniques. Congenital and acquired chromosomal aberrations.
Techniques of molecular diagnosis; utilisation in diagnosis of genetic disorders. Cancer genetics.
Genetic counselling. Genetic screening in pregnant women; prenatal diagnosis.
Ethical issues in medical genetics.