Preface -- Part 1: Introduction To Genetics -- Chapter 1: Genes and how they work -- Chapter 2: Genetic mutations and health -- Chapter 3: Genetic inheritance -- Chapter 4: Genetic counseling -- Chapter 5: Genetic testing -- 5-1: Overview of genetic testing -- 5-2: Prenatal testing -- 5-3: Newborn screening -- 5-4: Preventing genetic discrimination -- Part 2: Disorders Resulting From Abnormalities In Specific Genes -- Chapter 6: Albinism -- Chapter 7: Alpha-1 antitrypsin deficiency -- Chapter 8: Blood clotting deficiency disorders -- 8-1: Factor V Leiden thrombophilia -- 8-2: Hemophilia -- 8-3: Von Willebrand disease -- Chapter 9: Blood disorders (hemoglobinopathies) -- 9-1: Fanconi anemia -- 9-2: Hemochromatosis -- 9-3: Sickle cell disease -- 9-4: Thalassemia -- Chapter 10: CHARGE syndrome -- Chapter 11: Connective tissue disorders -- 11-1: What are heritable disorders of connective tissue? -- 11-2: Beals syndrome (congenital contractural arachnodactyly) -- 11-3: Ehlers-Danlos syndrome -- 11-4: Marfan syndrome -- 11-5: Osteogenesis imperfecta -- 11-6: Stickler syndrome -- Chapter 12: Cornelia de Lange syndrome -- Chapter 13: Cystic fibrosis -- Chapter 14: Endocrine disorders -- 14-1: Congenital adrenal hyperplasia (21-hydroxylase deficiency) -- 14-2: Congenital hypothyroidism -- 14-3: Kallmann syndrome -- Chapter 15: Familial hypercholesterolemia -- Chapter 16: Growth disorders -- 16-1: Achondroplasia -- 16-2: Dwarfism -- 16-3: Multiple epiphyseal dysplasia -- 16-4: Russell-Silver syndrome -- 16-5: Thanatophoric dysplasia -- Chapter 17: Heart rhythm disorders -- 17-1: Brugada syndrome -- 17-2: Familial atrial fibrillation -- 17-3: Long QT syndrome -- Chapter 18: Hereditary deafness -- 18-1: Usher syndrome -- 18-2: Waardenburg syndrome -- Chapter 19: Huntington disease --
Chapter 20: Hypohidrotic ectodermal dysplasia
Chapter 21: Inborn errors of metabolism
21-1: Biotinidase deficiency
21-2: Fructose intolerance
21-5: Maple syrup urine disease
21-6: Medium chain acyl-coenzyme A dedydrogenase deficiency
21-7: Methylmalonic acidemia
21-8: Phenylketonuria (PKU)
21-10: Urea cycle defects
Chapter 22: Kidney and urinary system disorders
22-2: Polycystic kidney disease
Chapter 23: Leukodystrophies
Chapter 24: Lipid storage diseases
24-4: Niemann-Pick disease
Chapter 25: Mitochondrial disease
Chapter 26: Neurofibromatosis
Chapter 27: Neuromuscular disorders
27-1: Charcot-Marie-Tooth disease
27-2: Early-onset primary dystonia
27-4: Hereditary spastic paraplegia
27-6: Spinal muscular atrophy
Chapter 28: Noonan syndrome
Chapter 30: Retinoblastoma
Chapter 31: Rett syndrome
Chapter 32: Tuberous sclerosis
Chapter 33: Vision disorders
33-1: Color vision deficiency
33-2: Early-onset glaucoma
33-3: X-linked juvenile retinoschisis
Chapter 34: Wilson disease
Part 3: Chromosome Abnormalities
Chapter 35: Angelman syndrome
Chapter 36: Cri du Chat syndrome
Chapter 37: DiGeorge syndrome
Chapter 38: Down syndrome and other trisomy disorders
38-2: Edwards syndrome (trisomy 18)
38-3: Patau syndrome (trisomy 13)
Chapter 39: Fragile X syndrome
Chapter 40: Klinefelter syndrome
Chapter 41: Prader-Willi syndrome
Chapter 42: Smith-Magenis syndrome
Chapter 43: Turner syndrome
Chapter 44: Williams syndrome
Part 4: Complex Disorders With Genetic And Environmental Components
Chapter 45: Gene-environment interaction in human disease
Chapter 46: Genetics and addiction
46-1: Genetics of alcoholism
46-2: Genetic trait linked to alcoholism
46-3: Genetics of addiction: a research update
Chapter 47: Genes and Alzheimer disease
47-1: Genetics of Alzheimer disease
47-2: New research on the genetics of Alzheimer disease
Chapter 48: Genetics and asthma
Chapter 49: Cancer and genetics
Chapter 50: Heredity and Crohn disease
Chapter 51: Genetics and mental illness
51-1: Family history of mental illness
51-2: New research on genetic ties to mental illness
Chapter 52: Diabetes: research reveals genetic link
Chapter 53: Genetics and heart disease
53-1: Cardiovascular disease and genetics: what is the connection?
53-2: New research in the genetics of heart disease
Chapter 54: Genetics and hypertension
54-1: Researchers identify gene variant linked to high blood pressure
54-2: Rare genetic mutations protect against hypertension
54-3: Genetics influence reaction to blood pressure medications
Chapter 55: Heredity and movement disorders
55-2: Heredity and Parkinson disease
Chapter 56: Genetic factors in obesity
56-1: Obesity and genetics: what we know and do not know
56-2: Researchers discover new genetic risk factors involved in adult and childhood obesity
Chapter 57: Tourette syndrome: genetic links
Chapter 58: Human genome project
Chapter 59: After the human genome project: what are the next steps?
Chapter 60: Over-the-counter genetic tests: what you need to know
Chapter 61: Pharmacogenomics: tailoring medicine to the individual
61-1: What is pharmacogenomics?
61-2: Pharmocogenomics: frequently asked questions
Chapter 62: Nutrigenomics: developing personalized diets for disease prevention
Chapter 63: Gene therapy: corre
