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Clinical genetics
Оборот титула
Table of contents
List of symbols and abbreviations
Introduction
Chapter 1. Introduction to clinical genetics
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Chapter 2. Heredity and pathology
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Chapter 3. Semiotics and clinical diagnostics of inherited diseases
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Chapter 4. Genetic diseases
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Chapter 5. Chromosomal disorders
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Chapter 6. Diseases with hereditary predisposition
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Chapter 7. Ecological genetics
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Chapter 8. Pharmacogenetics
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Chapter 9. Laboratory diagnostic methods
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Chapter 10. Guidelines for treatment of hereditary diseases
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Chapter 11. Prevention of hereditary pathology
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The burden of hereditary pathology in medical in social aspects
Genetic basis for the prevention of hereditary pathology
General provisions
Primary prevention
Secondary prevention
Tertiary prevention
Control of Gene Expression
Elimination of embryos and fetuses with hereditary pathology
Genetic engineering at the germline level
Family planning
Environmental protection
Medical genetic counseling
General provisions
Geneticist responsibilities
Diagnostics
Prognosis for progeny
Conclusion and recommendations for genetic counseling
Organizational issues
Analysis of the intensity of the population’s requests for genetic counseling
The effectiveness of medical genetic counseling
Prenatal diagnostics
General issues
Screening of pregnant women by the determination of biochemical markers (sieving methods)
Invasive methods
Conclusion
Preimplantation diagnostics
Preclinical diagnosis, screening programs and preventive treatment
Phenylketonuria
Congenital hypothyroidism
Congenital adrenal hyperplasia
Galactosemia
Cystic fibrosis
Keywords and concepts
Recommended bibliography
Chapter 12. Ethical issues in medical genetics
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Test questions
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Appendix
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