Genetic disorders sourcebook: basic consumer health information about heritable disorders, including disorders resulting from abnormalities in specific genes

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

21-3: Galactosemia

21-4: Homocystinuria

21-5: Maple syrup urine disease

21-6: Medium chain acyl-coenzyme A dedydrogenase deficiency

21-7: Methylmalonic acidemia

21-8: Phenylketonuria (PKU)

21-9: Tyrosinemia

21-10: Urea cycle defects

Chapter 22: Kidney and urinary system disorders

22-1: Cystinuria

22-2: Polycystic kidney disease

Chapter 23: Leukodystrophies

Chapter 24: Lipid storage diseases

24-1: Batten disease

24-2: Fabry disease

24-3: Gaucher disease

24-4: Niemann-Pick disease

24-5: Sandhoff disease

24-6: Tay-Sachs disease

Chapter 25: Mitochondrial disease

Chapter 26: Neurofibromatosis

Chapter 27: Neuromuscular disorders

27-1: Charcot-Marie-Tooth disease

27-2: Early-onset primary dystonia

27-3: Friedreich ataxia

27-4: Hereditary spastic paraplegia

27-5: Muscular dystrophy

27-6: Spinal muscular atrophy

Chapter 28: Noonan syndrome

Chapter 29: Porphyria

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

38-1: Down syndrome

38-2: Edwards syndrome (trisomy 18)

38-3: Patau syndrome (trisomy 13)

38-4: Triple X syndrome

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

49-1: Breast cancer

49-2: Colon cancer

49-3: Lung cancer

49-4: Prostate cancer

49-5: Skin cancer

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

55-1: Essential tremor

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

Part 5: Genetic Research

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