Thompson & Thompson Genetics in Medicine

7th Edition With STUDENT CONSULT Online Access

By Robert L. Nussbaum, MD, Chief, Genetic Diseases Research Branch; Acting Chief, Inherited Disease Research Branch, National Human Genome Research Institute; Executive Faculty, Johns Hopkins/NHGRI Joint Genetic Counseling Graduate program, National Institutes of Health; Roderick R. McInnes, MD, PhD, FRS(C), Scientific Director, Institute of Genetics, Canadian Institutes of Health Research, Anne and Max Tanenbaum Chair in Molecular Medicine; Professor of Pediatrics and Molecular and Medical Genetics, University of Toronto and The Hospital for Sick Children, Toronto, Canada; and Huntington F. Willard, PhD, President and Director, The Research Institute of University Hospitals of Cleveland, Henry Wilson Payne Professor and Chairman, Department of Genetics, Case Western Reserve University School of Medicine; Director, Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH

Introduction

1. Chromosomal Basis of Heredity

2. The Human Genome: Structure and Function of Genes and Chromosomes

3. Tools of Human Molecular Genetics

4. Principles of (Clinical) Cytogenetics

5. Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes

6. Mechanisms of Inheritance part I: Mendelian (or Single-Gene) Patterns

7. Mechanisms of Inheritance part II: Mitochondrial, Imprinted, and Multifactorial Patterns

8. Genetic Variation in Individuals and Populations

9. The Genetic Contribution to Disease: Locating and identifying Disease Genes

10. Principles of Molecular Disease: Lessons from the Hemoglobinopathies

11. The Molecular and Biochemical Basis of Genetic Disease

12. The Treatment of Genetic Disease

13. Developmental Disorders and Birth Defects (Leslie Biesecker)

14. Genetics of Cancer

15. Genetic Counseling and Risk Assessment

16. Molecular Diagnostics

17. Prenatal Diagnosis

18. Genetics and Society

Case Studies