Overview
Aims
Professional competences (knowledge and skills)
Maternal–fetal and family history taking; preparation and interpretation of a pedigree
Genetic consultation: indications and principles
Course contents
Course I: Introduction to medical genetics. DNA as the molecular substrate of heredity – 4h
Course II: Gene structure and function – 4h
Course III: Transmission of genetic information. Mutations and genetic recombination – 4h
Course IV: Genetic diseases: features, classification, frequency. Chromosomal disorders – 4h
Course V: Monogenic diseases (main types and examples). Disorders of sex development – 4h
Course VI: Multifactorial polygenic diseases (common diseases with genetic predisposition). Congenital anomalies – 4h
Course VII: Treatment of genetic diseases. Genetic counseling. Prenatal diagnosis. Newborn screening. Presymptomatic diagnosis – 4h
Learning outcomes
X-chromatin (Barr body) test: indications, procedure, interpretation
Chromosomal analysis: practical indications and limits; principles of methods and interpretation of results
Genetic diagnosis and counseling for chromosomal syndromes (Down, Klinefelter, Turner)
Parentage and paternity analysis
Prenatal screening and diagnosis: indications, methods, interpretation
Assessment
Written examination (essay-type exam)