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Chapter 3. Semiotics and clinical diagnostics of inherited diseases

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Clinical genetics

Table of contents

List of symbols and abbreviations

Chapter 1. Introduction to clinical genetics +

Chapter 2. Heredity and pathology +

Chapter 3. Semiotics and clinical diagnostics of inherited diseases -

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

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 +

Chapter 5. Chromosomal disorders +

Chapter 6. Diseases with hereditary predisposition +

Chapter 7. Ecological genetics +

Chapter 8. Pharmacogenetics +

Chapter 9. Laboratory diagnostic methods +

Chapter 10. Guidelines for treatment of hereditary diseases +

Chapter 11. Prevention of hereditary pathology +

Chapter 12. Ethical issues in medical genetics +

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