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Theme: Human Hereditary Diseases. Chromosomal Diseases

2. Object:

- form students’ knowledge of human chromosome diseases and their classification;

- explain genetic mechanisms of development of human chromosomal diseases;

- develop communicative skills during analysis of the etiology of human chromosomal pathologiesand their classification;

- develop communicative skills in the process of solution of typical situation problems and filling-in didactic tables;

- form practical skills in the process of role plays.

3. Educational Tasks:

- familiarize the students with the principal clinic manifestations of autosomal and gonosomic syndromes;

- teach students to differ karyotypes of normal and diseased persons;

- familiarize the students with the principal clinic manifestations of chromosomal diseases;

- teach students to apply the knowledge received in their practical activity and in the process of role plays;

- adopt practical skills of doctor’s thinking, principles of psychological assessment of the state of patients with hereditary diseases and members of their families, the ability to correctly build relations with them;

- adopt legal skills of relations with patients with chromosomal pathology and their relatives.

4. Principal Questions of the Theme:

4.1. Definition of human chromosomal diseases and their classification

4.2. Autosomal syndromes

4.3. Gonosomic syndromes

4.4. Main clinical signes of chromosome autosomal and gonosomic diseases

4.5. Diagnostics, prevention, and methods of treatment of human chromosomal diseases

5. Methods of Teaching: interrogation aimed at clarification of students’ understanding of the essence, object, and objectives of the lesson; ability to briefly, clearly, logically recount and ability of draw the learnt material in the form of schemes, diagrams, drawings; testing with subsequent discussion of errors; work in group: explanation and demonstration of problem solution, filling-in schemes

6. Literature:

6.1. Bochkov N.P. Clinical Genetics. M., 2006, pp. 48-64, 211-250, 323-335

6.2. Bochkov N.P. Clinical Genetics. M., 2011, pp. 48-64, 211-250, 323-335

6.3. Introduction to Molecular Medicine. Under redaction of Paltsev M.A. M., 2004, pp. 11.32

6.4. Genetics. Under redaction of Ivanov V.I. M., 2006, pp.411-429, 395-400.

6.5. Ginter Y.K. Medical Genetics, M., 2003, pp. 22-27, 187-199

6.6. Zhimulyov I.F. General and Molecular Genetics. Novosibirsk, 2003, pp. 31-38, 40-48, 452

6.7. Zayats R.G., V.E.Butvilovskiy et al. General and Medical Genetics. R-na-Donu, 2002, pp. 195-200, 228-235.

6.8. Lilin Y.T., Bogomazov et al. Genetics for Physicians. M., 1999, pp. 93-128

6.9. Medical Biology and Genetics. Study guide under red. of Prof. Kuandykov Y.U., A., 2004, pp. 133-146, 158-178

6.10. Medical Genetics. Under redaction of Acad. of the RAMS Bochkov N.P. – GEOTAR – Media, M., 2011, pp. 200-329

6.11. Chshipkov V.P., Krivosheina G.N. General and Medical Genetics. M., 2003, pp. 141-153

7. Control:

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