Genetics in Practice -- Contents -- List of Contributors -- Preface -- Introduction -- 1 The Scientific and Clinical Discoveries That are Used to Provide Current Patient Care -- A Family With Breast Cancer -- How Can We Record Details of Family History in Pictorial Form? -- Do Particular Patterns of Affected People Suggest that a Condition might be Inherited? -- Explaining Patterns of Inheritance: The Contribution of Mendel -- How does One Work Out the Probability of a Person being Affected or a Carrier? -- How are Genetic Factors Transferred from Generation to Generation? -- How do We Know that DNA is the Chemical Which Carries Hereditary Instructions/Genetic Information? -- How Can Only Four Letters Make a Human? -- How Does DNA Copy Itself to Pass Itself On? -- Why do We Need to Handle and Copy DNA in the Laboratory? -- How is the Location of a Gene Found? -- How Can We Identify Changes in a Gene? -- Reading the DNA Sequence -- How do We Know that Changes in a Gene are Responsible for a Genetic Condition? -- How are Genetics Information and Services Provided for Patients? -- 2 The Family History -- Guidelines for Taking a Family History and Drawing a Pedigree -- Interpretation of Information -- Potential Problems to be Aware of when Recording the Pedigree -- 3 Basic Biology -- Cell Differentiation -- Chromosomes -- Cell Division: Mitosis and Meiosis -- Chromosomal Abnormalities -- DNA: Deoxyribonucleic Acid -- Mitochondria -- 4 Laboratory Techniques -- Cytogenetics -- Molecular Genetics -- Metabolic Tests -- 5 Risk Perception and Options Available -- Factors Affecting Risk Perception -- Tests Available for Adults -- Pregnancy Options -- Case Study: Mr and Mrs Evans' Experience of Prenatal Diagnosis and Termination of Pregnancy -- Testing Children -- 6 Chromosome Disorders -- What is a Syndrome? -- Numerical Chromosome Abnormalities.

Structural Chromosome Abnormalities -- 7 Autosomal Dominant Disorders: 50% Risk to Offspring -- Common Autosomal Dominant Conditions -- Case Studies -- 8 Autosomal Recessive Disorders: Unaffected Parents with 25% Risk to Offspring -- Common Autosomal Recessive Conditions -- Estimating Risk -- Case Studies -- 9 X-Linked Disorders: Carrier Mothers, Affected Sons -- Common X-Linked Recessive Conditions -- Common Questions -- Case Studies -- Other Sex-Linked Conditions -- 10 Multifactorial Inheritance: Interaction of Genes and Environment -- Common Multifactorial Conditions -- Empiric Risks -- Case Studies -- 11 Mitochondrial Disorders: Inherited from Mother by Males and Females -- Common Mitochondrial Conditions -- Method of Inheritance -- Case Studies -- 12 Cancer Genetics -- Epidemiology -- Aetiology -- Risk Factors -- Development of Cancer: The Biological Process -- Assessment of Families With a Cancer History -- Breast/Ovarian Cancer Families -- Colorectal Cancer Families -- 13 Ethnicity -- Overview of Cultural Differences -- Incidence of Genetic Disorders among Different Ethnic Groups -- Case Studies -- 14 Ethical Issues -- Professional/Patient Relationships -- Ethical Theory and Implications for Genetics -- Ethical Dilemmas in Genetic Practice -- Genetics and Society -- 15 Professional Development -- Genetic Counselling -- Association of Genetic Nurses and Counsellors (AGNC) -- Implications for Other Health Professionals -- 16 Here and Now: Integrating Current Possibilities into Patient Care -- Where can Genetics Contribute to Patient Care Pathways? -- Issues for Future Practice -- Glossary -- Useful Websites -- Index.