Medicine · Year 4 · MU Plovdiv
Medical Genetics
The full MU Plovdiv syllabus for Medical Genetics, Medicine, Year 4: 33 topics, 8 topics with a free study note (31 minutes of reading), and 73 flashcards. Updated 13 November 2026.
- syllabus topics
- 33
- free notes
- 8
- flashcards
- 73
- of reading
- 31 min
Syllabus
The topics in the order of the MU Plovdiv syllabus. Each one with a note opens in AceMed once you're signed in.
- 1. Material basis of heredity. Nucleic acids. Proteins. Gene – structure and function, mechanisms of gene regulation. Genetic code.Being written
- 2. Molecular and subcellular organization of human chromosomes. Karyotype.8 min · 15 cards
- 3. Gene mutations. Mutagenic factors. Importance of mutagenesis.Being written
- 4. Main disorders of the karyotype. Mechanisms of occurrence of chromosomal aberrations, designation.Being written
- 5. Chromosomal diagnostics – methods (direct and indirect). Banding techniques – diagnostic possibilities. Chromosomal polymorphism. Heterochromatin markers. Sex chromatin – essence, diagnostic value.Being written
- 6. DNA analysis. PCR. Southern blot. Mutation analysis. DNA sequencing.Being written
- 7. Chromosomal pathology. Chromosomal diseases associated with numerical aberrations of autosomes, complete and mosaic forms. Medical genetic consultation (MGC).4 min · 14 cards
- 8. Chromosomal pathology. Chromosomal diseases associated with structural aberrations of autosomes. Partial monosomies and trisomies. Microdeletion syndromes. Subtelomeric aberrations. Molecular cytogenetics.Being written
- 9. Chromosomal pathology. Chromosomal diseases associated with aberrations of gonosomes, MGC.Being written
- 10. Sex determination and differentiation. Male and female pseudohermaphroditism, true hermaphroditism. Examples.Being written
- 11. Autosomal dominant type of inheritance – clinical and genetic patterns, features, examples. MGС.13. Sex-linked type of inheritance (X-recessive and X-dominant). Clinical-genetic patterns, examples, MGС. Sex-dependent traits.1 min
- 12. Autosomal recessive type of inheritance – clinical and genetic patterns. Examples. MGC.13. Sex-linked type of inheritance (X-recessive and X-dominant). Clinical-genetic patterns, examples, MGС. Sex-dependent traits.1 min
- 13. Sex-linked type of inheritance (X-recessive and X-dominant). Clinical-genetic patterns, examples, MGС. Sex-dependent traits.1 min
- 14. Heterogeneous diseases – essence, examples, clinical-genetic polymorphism.4 min · 15 cards
- 15. Multifactorial type of inheritance - clinical-genetic patterns, examples, MGC. Diseases with hereditary predisposition.Being written
- 16. Non-Mendelian type of inheritance – types. Dynamic mutations. Triplet repeat expansion – essence, examples, clinical-genetic characteristics. MGC.Being written
- 17. Non-Mendelian type of inheritance – types. Genetic imprinting – essence, examples, clinical-genetic characteristics. MGC.Being written
- 18. Mitochondrial genome. Mitochondrial type of inheritance – essence, examples, clinical-genetic characteristics. MGC.Being written
- 19. Cystic fibrosis - clinical-genetic characteristics, MGC.Being written
- 20. Phenylketonuria - clinical and genetic characteristics, treatment, MGС. Other hereditary aminoacidurias. Mass screening for hereditary diseases in newborns.Being written
- 21. Hemophilia - types, clinical and genetic characteristics, MGС.Being written
- 22. Duchenne and Becker muscular dystrophy. Clinical and genetic characteristics, MGС.Being written
- 23. Enzymopathies and lysosomal storage diseases - lipidoses, mucopolysaccharidoses, glycogenoses. Clinical and genetic characteristics, MGС.Being written
- 24. Hereditary diseases of lipid metabolism. Hyperlipidemias. Types. Clinical and genetic characteristics, MGС.Being written
- 25. Defects of purine metabolism, clinical and genetic characteristics, MGС.6 min · 14 cards
- 26. Polycystic kidney disease - types, clinical and genetic characteristics, MGС.Being written
- 27. Hereditary collagen diseases – examples, clinical and genetic characteristics, MGС.Being written
- 28. Hemoglobin. Hemoglobinopathies and hemoglobinoses - clinical and genetic characteristics, MGС.Being written
- 29. Hereditary metal diseases. Hemochromatosis. Wilson-Konovalov disease. Clinical and genetic characteristics, MGС.6 min · 15 cards
- 30. Pharmacogenetics. Pharmacogenetic defects and pharmacogenetic polymorphism. Glucose-6- phosphate dehydrogenase. Clinical and genetic characteristics, MGС.Being written
- 31. Oncogenetics. Oncogenes and tumor suppressor genes. Chromosomal markers in leukemias, lymphomas and myelodysplastic conditions. Diagnostics. Prognostic significance, relation to therapeutic behavior.Being written
- 32. Prevention and therapy of hereditary pathology - basic approaches. Medical genetic consultation - essence, indications, tasks. Prenatal diagnosis - methods, indications.Being written
- 33. Screening for hereditary diseases and defects: mass and selective, prenatal and postnatal.Being written
Other Year 4 subjects
- Clinical Immunology8 notes
- Internal Diseases – Part 1 (Rheumatology, Pulmonology, Phthisiatrics, Cardiology, Haematology)67 notes
- Neurology74 notes
- Ophthalmology58 notes
- Orthopaedics and Traumatology43 notes
- Otorhinolaryngology18 notes
- Pathological Anatomy and Cytopathology130 notes
- Pharmacology and Clinical Pharmacology57 notes
- Special Surgery74 notes
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