BookPeter D. Turnpenny, Sian Ellard, Ruth Cleaver.
Contents:
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, precision 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.