16. Control:

    1. .Rating of cognitive competences (knowledge)

8.1.1. Quizzes on topics

8.1.2. Test Control-2 variant with 10 questions

8.2. Rating of competence skills

8.2.1. Fill the table:

Table 1

Types of inheritance and clinical manifestations of monogenic nonmendelian diseases of person

nonmendelian diseases Etiology and possible types of inheritance	diseases	clinical manifestations of

2. Rating of competence, communication skills

3. 1. Work in small group role-playing game "pediatrician" (performed by the methodical recommendations developed for doing this task

4. The decision of situational problems.

3. In the medical-genetic consultation asked parents of a sick child to complain: for obesity, bulimia (overeating), small hands and feet, hypogonadism, mental retardation. In the study of DNA established that epigenetic mutation, methylation of cytosine bases of DNA in spermatogenesis, breach by appropriate expression genov.Postavte diagnosis of a sick child, identify the syndrome, the cause of the mechanism of disease.

4. In the medical-genetic consultation asked parents of a sick child to complaints: obesity, inappropriate laughter, galloping, to dance gait, mental retardation. In the study of DNA established that epigenetic mutation, methylation of cytosine bases of DNA in oogenesis, impaired expression of the genes. Place a diagnosis of a sick child, identify the syndrome, install the causal mechanism.

Lesson number 16

1. Title: physician-genetic consultancy

2. Aims:Form beside student of the knowledge about physician-genetic consultancy, as about specialized type physician-preventive help sick with hereditary pathology and member their family.

3. Problems of the education:

- reveal essence and importance physician-genetic consultancy (PGC), its role and importance in modern medicine and healthkeep,

- acquaint student with main purpose and problem physician-genetic consultancy,

- reveal essence and importance each of stage PGC,

- call attention student on psychological aspects PGC,

- accent attention a student on legal aspect PGC,

- accent attention a student on dug and importance well-timed распознания discovery and directions sick with installed by diagnosis or suspicion on hereditary pathology on physician-genetic consultancy,

-reveal essence and importance of the methods пренатальной (antenatal) of the diagnostics hereditary disease,

- reveal essence and importance of the methods преимплантационной diagnosticses of the genetic breaches,

- form beside student understanding dug physician of all professions in reduction of the diseases and death-rate of the population from hereditary pathology,

- acquaint the student with legal and ethical principle of the undertaking РGС.

4. The Methods of the education: multifunction method of the education (conversation, formation and genealogical analysis family, calculation of the genetic risk of the hereditary diseases)

5. The Main questions of the subject:

5.1 The Preventive maintenance to hereditary pathology. Primary and secondary preventive maintenance.

5.2 PGC - a base of the primary preventive maintenance to hereditary pathology. The Retrospective, the prospective consultancy.

5.3 The Evidences for PGC. The Stages PGC.

5.4 The Genetic forecast. The Methodses of the calculation of the genetic risk:

a) at disease with HELL-type of the inheritance

b) at disease with ARE-type of the inheritance

c) at disease with Х-сцепленным доминантным by type of the inheritance,

d) at disease with Х-сцепленным recessive type of the inheritance,

e) under chromosome syndrome.

5.5 Prenatalinaya diagnostics. Invazivnye and Uninvazivnye methods

5.6 Predimplanticionnaya diagnostics