Emery's elements of medical genetics / created by Peter D. Turnpenny and Sian Ellard

Includes bibliographical references and index.

The history and impact of genetics in medicine -- Section A: The scientific basis of human genetics -- The cellular and molecular basis of inheritance -- Chromosomes and cell division -- Finding the cause of monogenic disorders by identifying disease genes -- Laboratory techniques for diagnosis of monogenic disorders -- Patterns of inheritance -- Population and mathematical genetics -- Risk calculation -- Developmental genetics -- Section B: Genetics in medicine and genomic medicine -- Common disease, polygenic and multifactorial genetics -- Screening for genetic disease -- Hemoglobin and the hemoglobinopathies -- Immunogenetics -- The genetics of cancer and cancer genetics -- Pharmacogenetics, personalized medicine and the treatment of genetic disease -- Section C: Clinical genetics, counseling, and ethics -- Congenital, abnormalities, dysmorphic syndromes, and learning disability -- Chromosome disorders -- Inborn errors of metabolism -- Mainstream monogenetic disorders -- Prenatal testing and reproductive genetics -- Genetic counseling -- Ethical and legal issues in medical genetics.