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Clinical genetics
Chapter 3. Semiotics and clinical diagnostics of inherited diseases
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Оглавление
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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General observations
Particularities of the clinical manifestations of hereditary pathology
Family nature of the disease
The chronic recurrent progressive course
Specific symptoms of hereditary diseases
Multiple organ and system pathological changes
Congenital nature of the disease
Resistance to the most common methods of therapy
General principles of clinical diagnostics of hereditary diseases
Observation and examination of patients and their relatives
Congenital malformations. Genetic mechanisms of embryonic development
Classification and etiology of congenital malformations
Anthropometry
Signs of dysmorphogenesis in the diagnosis of hereditary and congenital pathologies
Signs of dysmorphogenesis
Pregnancy course
Clinicogenealogical method
Compilation of a pedigree
Genealogical analysis
Autosomal dominant inheritance disorders
Autosomal recessive inheritance disorders
X-linked dominant inheritance disorders
X-linked recessive inheritance disorders
Y-linked inheritance
Mitochondrial inheritance
Syndromological approach to diagnostics of hereditary diseases
Paraclinical studies in clinical genetics
Software tool for diagnostics of hereditary diseases
Keywords and concepts
Recommended bibliography
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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Chapter 12. Ethical issues in medical genetics
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Test questions
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Appendix
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