Includes bibliographical references and index.

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: correcting defective genes -- Part 6: Information For Parents Of Children With Genetic Disorders -- Chapter 64: When your baby has a birth defect -- Chapter 65: Parenting a child with a disability: where to start -- Chapter 66: Early intervention: an overview -- Chapter 67: Assistive technology for infants and toddlers -- Chapter 68: Guide to the individualized education program -- Chapter 69: Transition to adulthood -- 69-1: Issues to consider as your child with special needs transitions to adulthood -- 69-2: Parent tips for transition planning -- 69-3: Preparing for employment -- 69-4: Community services can aid in independence -- Chapter 70: Estate planning for families of children with special needs -- 70-1: Securing your family's financial future -- 70-2: Supplemental needs trusts: some frequently asked questions -- Part 7: Additional Help And Information -- Chapter 71: Glossary of terms related to human genetics -- Chapter 72: Heritable disorders: a directory of resources for patients and families -- Index.

From the Publisher: Provides basic consumer health information about disorders caused by gene and chromosome abnormalities and those with genetic and environmental components, genetic testing, treatment research, and guidance for parents of children with special needs. Includes index, glossary of related terms, and other resources.