Human Genetics

本書の特色

医学部の１，2年生に有用な遺伝学のコアテキスト．対象となる疾患がもっともよく現れる器官系統を背景にその疾患を検証するというユニークなアプローチを用いて，遺伝学の概念を解説する．患者と家族の視点を取り上げたことにより，読者は重篤な遺伝性疾患をもつ患者の主な障害を理解し予測することができる．また，主要な30の遺伝性疾患の概要は，独立したセクションにまとめられている．
英語を用いる読者のために，好評のドイツ語のテキストをベースに入念に書き改められた．

Table of Contents
1. Introduction
Part 1: 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 2: 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 3: 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 4: Approaches to Clinical Problems
33. Infertility and Sterility
34. Miscarriage and Fetal Demise
35. Growth Disturbances
36. Abnormal Head Size
37. Immunodeficiency Syndromes
Part 5: Living with Genetic Disorders – Patient Reports
38. Reports of Patients and Their Families
Glossary