Human Genetics: From Molecules to Medicine

This core genetics text supports medical students in their first or second year. Unique in its approach, Human Genetics teaches concepts by exploring disease entities within the context of the organ system in which they most frequently present. Coverage of the patient and family's point of view helps students understand and anticipate the major obstacles for those living with severe genetic conditions. Top 30 genetic conditions are profiled in a special section.

Note to Booksellers: Content has been carefully adapted from the critically acclaimed German text for the English language audience. This book is not available for sale in Germany.

Features:

• Excursions boxes feature information that helps students tie abstract concepts to more concrete examples.

• Chapter objectives prepare students for the material to follow.

• More than 100 full-color clinical photographs profile common and rare disorders.

• More than 50 full-color diagrams illustrate concepts visually.

• Highlighted terms within chapters and end-of-text Glossary make it easy to locate and understand the language of genetics.

• Online cases with recommendations for diagnosis and treatment

Part I: The Biological Basis of Human Genetics

2. Molecular Basis of Human Genetics

3. Mutations and Genetic Variability

4. Pathomechanisms of Genetic Diseases

5. Modes of Inheritance

6. Twin Pregnancies

7. Cancer Genetics

8. Aging and Genetics

9. Pharmacogenetics

Part II: The Clinical Basis of Medical Genetics

10. Human Genetics as a Medical Specialty

11. Genetic Counseling

12. The Diagnostic Approach for a Child with Multiple Anomalies or Dysmorphic Features

13. Malformations and Other Morphological Disturbances

14. Risk Estimation and Calculation

15. Methods for Laboratory Diagnostics in Genetics

16. Metabolic Diagnostics and Newborn Screening

17. Prenatal Genetic Evaluation

18. Ethical Concerns in Medical Genetics

Part III: Clinical Genetics

19. Multiple Congenital Anomalies

20. Skin and Connective Tissue

21.Cardiovascular System and Hematology

22. Respiratory System

23. Gastrointestinal and Digestive System

24. Metabolic Disorders

25. Endocrinology and Immune System

26. Skeletal System

27. Urinary System

28. Genital System and Sexual Development

29. Visual System

30. Auditory System

31. Neurological and Neuromuscular Disorders

32. Neoplastic Diseases

Part IV: Approaches to Clinical Problems

33. Infertility and Sterility

34. Miscarriage and Fetal Demise

35. Growth Disturbances

36. Abnormal Head Size

37. Immunodeficiency Syndromes

Part V: Living with Genetic Disorders – Patient Reports

38. Reports of Patients and Their Families

Glossary