Genetic disorders sourcebook : basic consumer health information about heritable disorders, including disorders resulting from abnormalities in specific genes, such as hemophilia, sickle cell disease, and cystic fibrosis, chromosomal disorders, such as Do

'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'--Provided by publisher. 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 None 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. Offers information on how genes work and provides facts about the most common genetic disorders, including those that arise from mutations in specific genes, those that arise from chromosomal abnormalities, and disorders with genetic and environmental components, such as cancer, diabetes, mental illness, obesity, and addiction