Questions for differential test of medical genetics icon

Questions for differential test of medical genetics




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Questions for differential test of medical genetics


1. Subject and tasks of medical genetics. Role of the medical-genetic knowledge in practical work of the general practitioner. Place of the medical genetics in the system of medical knowledge, connection between medical genetic and other clinical and medical-preventive subjects.

2. Mutations as etiological reasons. Genome, chromosomal and gene mutations. Reasons of the mutations. Physical, chemical, biological mutagens. Spontaneous and inducted mutagenesis (methods of study, account and control of the mutagenic effects of the human-industrial facts of the environment).

3. Clinical-genealogical method. Stages of the clinical-genealogical examination. Main terms: pedigree, proband, legend of the pedigree, signs. Method of the genealogical information gathering and its peculiarities in case of different pathology.

4. Meaning of the clinical-genealogical method at clinical work for the estimation of the origin of the disease, examination of the clinical manifestation, differential diagnostic of the inherit form of pathology, study of genetic heterogenic characteristic of the disease, estimation risk of the development of new cases of the disease in the family, prognosis of the disease for life. Criteria of different types of inherit: autosomal-dominant, autosomal-recessive, X-link dominant, X-link recessive, Y-link, mitochondrial.

5. Genealogical analyze in case of the multifactorial diseases. Dependence between repeated risk and sex of the patient, quantity of the ill relatives, degree of the kinship with a proband, majority of the disease.

6. Meaning of the cytogenetic method in clinical practice. Variants of the cytogenetic methods of the study. Notion about the caryotype. Modern methods of the chromosome study: prometaphase analyze, fluoriscental hybridization in situ, autoradiographical study, chromosomal specific and regional specific molecular probes. Evidence for the cytogenetic study.

7. Peculiarities of the clinical examination of the patients and their relatives, that influence diagnostic of the congenital and inherit pathology. Peculiarities of the phenotype, specifies of the morphogenetic spectrum of the development variants in case of inherit pathology. Anthropometric in diagnostic of the inherit diseases

8. Defects of growth: primary and secondary. Isolated, system and plural congenital defects of growth. Etiological heterogeneity of the CDG. Definition of the syndrome, association, deformation, dysplasia.

9. Etiology, pathogenesis, classification of the monogenic diseases.

10. Clinic, genetic, diagnostic of Ellerse-Danlo syndrome.

11. Clinic, genetic, diagnostic of Marphane syndrome.

12. Clinic, genetic, diagnostic of mucoviscedosis.

13. Clinic, genetic, diagnostic of congenital hypothyroidism.

14. Clinic, genetic, diagnostic of neurofibromatosis.

15. Clinic, genetic, diagnostic of Goshe disease.

16. Clinic, genetic, diagnostic of PKU.

17. Clinic, genetic, diagnostic of Down’s syndrome. .

18. Clinic, genetic, diagnostic of Patau syndrome.

19. Clinic, genetic, diagnostic of Edward`s syndrome.

20. Clinic, genetic, diagnostic of “cat-crying” syndrome.

21. Clinic, genetic, diagnostic of Klinefelter syndrome.

22. Clinic, genetic, diagnostic of Terner syndrome.

23. Clinic, genetic, diagnostic of MELAS syndrome.

24. Clinic, genetic, diagnostic of MERRF syndrome.

25. Clinic, genetic, diagnostic of Leber syndrome.

26. General principles of the diagnostic and treatment of the mitochondrial pathology.

27. General characteristic of the mitochondrial pathology, principles of the classification, schemes and algorithms of the patient`s examination suspected mitochondrial pathology.

28. General characteristic of the multifactorial diseases, principles of its classification, prognosis.

29. Role of the environment in human`s evolution. Ecogenetic diseases. Etiology and pathogenesis. Classification, Nosological forms with different provoke reasons (drugs, food, climate).

30. Types of the inherit pathology prevention: primary, secondary and third levels.

31. Medical-genetic consulting (MGC) as type of the special medical care for the population. Tasks of the MGC and evidence for the patient`s and relatives direction to the MGC.

32. Noninvasive methods of the prenatal diagnostic.

33.Invasive methods of the prenatal diagnostic.

34. Criteria of the total screening. Screening of the newborns. Methods of the screening.





Situational tasks, pedigree, photo of the patients with inherit and congenital pathology, caryograms are added.


Head of the pediatric department №2

VNMU named after N.I. Pirogov professor Dudnik V.M.

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