Thompson & Thompson genetics in medicine / created by Robert L. Nussbaum,MD, FACP, FACMG, Holly Smith Chair of Medicine and Science, Professor of Medicine, Neurology, Pediatrics and Pathology, Department of Medicine and Institute for Human Genetics, University of California San Francisco, San Francisco, California, Roderick R. McInnes, CM, MD, PhD, FRS(C), FCAHS, FCCMG, Alva Chair in Human Genetics, Canada Research Chair in Neurogenetics, Professor of Human Genetics and Biochemistry, Director, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Quebec, Canada, Huntington F. Willard, PhD, President and Director, The Marine Biological Laboratory, Woods Hole, Massachusetts, and Professor of Human Genetics, University of Chicago, Chicago, Illinois ; with clinical cases updated by Ada Hamosh, MD, MPH, Professor of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Scientific Director, OMIM, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Originally published under the title: Genetics in medicine / James S. Thompson and Margaret W. Thompson.

Includes bibliographical references and index.

Introduction to the human genome -- The human genome: gene structure and function -- Human genetic diversity: mutation and polymorphism -- Principles of clinical cytogenetics and genome analysis -- The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes -- Patterns of single-gene inheritance -- Complex inheritance of common multifactorial disorders -- Genetic variation in populations -- Identifying the genetic basis for human disease -- The molecular basis of genetic disease : general principles and lessons from the hemoglobinopathies -- The molecular, biochemical, and cellular basis of genetic disease -- The treatment of genetic disease -- Developmental genetics and birth defects -- Cancer genetics and genomics -- Risk assessment and genetic counseling -- Prenatal diagnosis and screening -- Application of genomics to medicine and personalized health care -- Ethical and social issues in genetics and genomics.