Syllabus
Genetic disorders
- Theme 1: The most significant monogenic diseases. Lecturer MUDr. Marie Černá, CSc.
Cases of single genetic diseases: (pedigree, clinical manifestation, diagnosis, complication, prognosis, prevention, therapy)
- Theme 2: Birth defects. Lecturer MUDr. Miloslav Kuklík,CSc.
The birth defects, the primary and secondary prevention
Some case reports from the medical (clinical genetics) praxis: Hajdu |Cheney syndrome , Pierre Robin anomaly, Stickler syndrome, Cerebrocostomandibular syndrome, Nevoid basal cell carcinoma syndrome, families with multiple idiopathic impactions of teeth, the amelogenesis, dentinogenesis and osteogenesis imperfecta, Beckwith-Wiedemann syndrome
Syndromology and symptomatology, the chromosomal aberrations
- Theme 3: Clinical cytogenetics. Lecturer RNDr. Zdena Polívková
Review of pathological karyotypes (numerical and structural chromosomal aberrations), prenatal cytogenetic diagnosis, indications for postnatal and prenatal cytogenetic examination, chromosomal abnormalities in tumors, "breakage" syndromes, chromosomal abnormalities and infertility, microdeletion syndromes, dynamic mutations, gene imprinting and human pathologies, role of cytogenetics in clinical genetics.
- Theme 4: Genetics of tumor diseases. Lecturer MUDr. Sylvie Sytařová
Causes of tumor diseases, genetic counselling in tumor diseases, genetic counselling in families with hereditary forms of malignancy: hereditary breast and ovarian cancer, familiar adenomatous polyposis, hereditary nonpolyposis colorectal cancer (Lynch syndrome), Li-Fraumeni syndrome
Annotation
Partial course "Genetic disorders" is a part of Module IIA: General Medicine. It gives to students a systematical knowledge of basic genetic disorders.