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Clinical genetics
Оборот титула
Оглавление
List of symbols and abbreviations
Introduction
Chapter 1. Introduction to clinical genetics
+
Chapter 2. Heredity and pathology
+
Chapter 3. Semiotics and clinical diagnostics of inherited diseases
+
Chapter 4. Genetic diseases
+
Chapter 5. Chromosomal disorders
-
General issues
Etiology and classification
Effects of chromosomal abnormalities in ontogenesis
Mortality
Congenital malformations
Effects of chromosomal abnormalities in somatic cells
Pathogenesis
Clinical and cytogenetic characteristics of the most common chromosomal disorders
Down syndrome
Patau syndrome (trisomy 13)
Edwards syndrome (trisomy 18)
Trisomy 8
Sex chromosome polysomies
Triple-X syndrome (47, XXX)
Klinefelter syndrome
Y-chromosome disomy syndrome (47,XYY)
Turner syndrome (45,X)
Partial aneuploidy syndromes
“Cat’s cry” syndrome
Wolf–Hirschhorn syndrome (partial monosomy 4p–)
Partial trisomy of the short arm of chromosome 9 (9p+)
Syndromes caused by microstructural chromosomal aberrations
Increased risk factors for congenital chromosomal disorders
Keywords and concepts
Recommended bibliography
Chapter 6. Diseases with hereditary predisposition
+
Chapter 7. Ecological genetics
+
Chapter 8. Pharmacogenetics
+
Chapter 9. Laboratory diagnostic methods
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Chapter 10. Guidelines for treatment of hereditary diseases
+
Chapter 11. Prevention of hereditary pathology
+
Chapter 12. Ethical issues in medical genetics
+
Test questions
+
Appendix
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Раздел
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16
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29
Chapter 5. Chromosomal disorders
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Clinical genetics
Оглавление
List of symbols and abbreviations
Introduction
Chapter 1. Introduction to clinical genetics
+
Chapter 2. Heredity and pathology
+
Chapter 3. Semiotics and clinical diagnostics of inherited diseases
+
Chapter 4. Genetic diseases
+
Chapter 5. Chromosomal disorders
-
General issues
Etiology and classification
Effects of chromosomal abnormalities in ontogenesis
Mortality
Congenital malformations
Effects of chromosomal abnormalities in somatic cells
Pathogenesis
Clinical and cytogenetic characteristics of the most common chromosomal disorders
Down syndrome
Patau syndrome (trisomy 13)
Edwards syndrome (trisomy 18)
Trisomy 8
Sex chromosome polysomies
Triple-X syndrome (47, XXX)
Klinefelter syndrome
Y-chromosome disomy syndrome (47,XYY)
Turner syndrome (45,X)
Partial aneuploidy syndromes
“Cat’s cry” syndrome
Wolf–Hirschhorn syndrome (partial monosomy 4p–)
Partial trisomy of the short arm of chromosome 9 (9p+)
Syndromes caused by microstructural chromosomal aberrations
Increased risk factors for congenital chromosomal disorders
Keywords and concepts
Recommended bibliography
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
+
Test questions
+
Appendix
+
