Title 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 down syndrome, fragile x syndrome, and klinefelter syndrome, and complex disorders with environmental and genetic components, such as alzheimer disease, cancer, heart disease, and obesity ; along with information about the human genome project, genetic testing and newborn screening, gene therapy and other current research initiatives, the special needs of children with genetic disorders, a glossary of terms, and a directory of resources for further help and information / edited by Sandra J. Judd.

Publication Info.

Detroit, MI : Omnigraphics, Inc., [2013]

Copies

Location	Call No.	Status
East Hartford, Raymond Library - Reference Material	REF 616.042 GENETIC	In-Library Use Only

Edition	Fifth edition.
Description	xxi, 715 pages ; 23 cm.
Series	Health reference series
	Health reference series.
Bibliography	Includes bibliographical references and index.
Summary	"Provides basic consumer health information about disorders caused by gene and chromosome abnormalities and those with genetic and environmental components, along with facts about genetic testing and treatment research, and guidance for parents of children with special needs. Includes index, glossary of related terms, and other resources"-- Provided by publisher.
Contents	pt. I. Introduction to genetics -- 1. Cells and DNA : the basics -- 2. How genes work -- 3. Genetic mutations and health -- 4. Genetic inheritance -- 5. Genetic counseling -- 6. Testing for genetic disorders -- 6.1. What you need to know about genetic testing -- 6.2. Prenatal genetic testing -- 6.3. Newborn screening -- 6.4. Screening for critical congenital heart defects -- 7. Preventing genetic discrimination.
	pt. II. Disorders resulting from abnormalities in specific genes -- 8. Albinism -- 9. Alpha-1 antitrypsin deficiency -- 10. Blood clotting deficiency disorders -- 10.1. Factor V Leiden thrombophilia -- 10.2. Hemophilia -- 10.3. Von Willebrand disease -- 11. Blood disorders (hemoglobinopathies -- 11.1. Fanconi anemia -- 11.2. Hemochromatosis -- 11.3. Sickle cell disease -- 11.4. Thalassemia -- 12. CHARGE syndrome -- 13. Connective tissue disorders -- 13.1. what are heritable disorders of connective tissue? -- 13.2. Beals syndrome (congenital contractural arachnodactyly) -- 13.3. Ehlers-Danlos syndrome -- 13.4. Marfan syndrome -- 13.5. Osteogenesis imperfecta -- 13.6. Stickler syndrome -- 14. Cornelia de Lange syndrome -- 15. Cystic fibrosis -- 16. Endocrine disorders -- 16.1. Congenital adrenal hyperplasia (21-hydroxylase deficiency) -- 16.2. Congenital hypothyroidism -- 16.3. Kallmann syndrome -- 17. Familial hypercholesterolemia -- 18. Growth disorders -- 18.1. Achondroplasia -- 18.2. Dwarfism -- 18.3. Multiple epiphyseal dysplasia -- 18.4. Russell-Silver syndrome -- 18.5. Thanatophoric dysplasia -- 19. Heart rhythm disorders -- 19.1. Brugada syndrome -- 19.2. Familial atrial fibrillation -- 19.3. Long QT syndrome -- 20; Hereditary deafness -- 20.1. Usher syndrome -- 20.2. Waardenburg syndrome -- 21. Huntington disease -- 22. Hypohidrotic ectodermal dysplasia -- 23. Inborn errors of metabolism -- 23.1. Biotinidase deficiency -- 23.2. Fructose intolerance -- 23.3. Galactosemia -- 23.4. Homocystinuria -- 23.5. Maple syrup urine disease -- 23.6. Medium chain, acyl-coenzyme A, dehydrogenase deficiency -- 23.7. Methylmalonic acidemia -- 23.8. Phenylketonuria (PKU) -- 23.9. Tyrosinemia -- 23.10. Urea cycle defects -- 24. Kidney and urinary system disorders -- 24.1. Cystinuria -- 24.2. Polycystic kidney disease -- 25. Leukodystrophies -- 26. Lipid storage diseases -- 26.1. Batten disease -- 26.2. Fabry disease -- 26.3. Gaucher disease -- 26.4. Niemann-Pick disease -- 26.5. Sandhoff disease -- 26.6. Tay-Sachs disease -- 27. Mitochondrial diseases -- 27.1. Basic facts about mitochondrial diseases -- 27.2. Treatments and therapies for mitochondrial diseases -- 28. Neurofibromatosis -- 29. Neuromuscular disorders -- 29.1. Charcot-Marie-Tooth disease -- 29.2. Early-onset primary dystonia -- 29.3. Friedreich ataxia -- 29.4. Hereditary spastic paraplegia -- 29.5. Muscular dystrophy -- 29.6. Spinal muscular atrophy -- 30. Noonan syndrome -- 31. Porphyria -- 32. Retinoblastoma -- 33. Rett syndrome -- 34. Tuberous sclerosis -- 35. Vision disorders -- 35.1. Color vision deficiency -- 35.2. Early-onset glaucoma -- 35.3. X-linked juvenile retinoschisis -- 36. Wilson disease.
	pt. III. Chromosome abnormalities -- 37. Angelman syndrome -- 38. Cri du Chat syndrome -- 39. Down syndrome and other trisomy disorders -- 39.1. Down syndrome -- 39.2. Edwards syndrome (trisomy 18) -- 39.3. Patau syndrome (trisomy 13) -- 39.4. Triple X syndrome -- 40. Fragile X syndrome -- 41. Klinefelter syndrome -- 42. Prader-Willi syndrome -- 43. Smith-Magenis syndrome -- 44. Turner syndrome -- 45. Velocardiofacial syndrome -- 46. Williams syndrome.
	pt. IV. Complex disorders with genetic and environmental components -- 47. Genes, behavior, the environment, and health -- 48. Addiction and genetics -- 48.1. Genetics of alcohol use -- 48.2. Genetic variation may contribute to risk of alcoholism -- 48.3. Genes influence amount of alcohol consumption -- 48.4. Genetic research leads to advance in treatment of alcoholism -- 48.5. Genes influence how much people smoke and risk of lung cancer -- 48.6. Odds of quitting smoking are affected by genetics -- 49. Alzheimer disease and genetics -- 49.1. Genes related to Alzheimer disease -- 49.2. Gene mutation may triple alzheimer risk -- 49.3. Additional genes linked to alzheimer risk -- 50. Asthma and genetics -- 50.1. Basic facts about genes and asthma -- 50.2. New research on the genetics of asthma -- 51. Cancer and genetics -- 51.1. Breast cancer and heredity -- 51.2. Colon cancer and heredity -- 51.3. New lung cancer gene found -- 51.4. Lung cancer and other implicated genes -- 51.5. Skin cancer and heredity -- 51.6. Genetic risks for prostate, breast, and ovarian cancers -- 51.7. Genetic link to prostate cancer risk in African Americans -- 52. Crohn disease and genetics -- 53. Mental illness and genetics -- 53.1. Familial recurrence of mental illness -- 53.2. Family history as predictor of severity of mental illness -- 53.3. Genetic links in obsessive-compulsive disorder -- 53.4. Genetic links in schizophrenia and bipolar disorder -- 54. Diabetes and genetics -- 55. Heart disease and genetics -- 55.1. How genetics impact heart disease risk -- 55.2. Genetic link to aortic valve disease discovered -- 55.3. New research on genetic ties to heart attack, arrhythmia, and coronary artery disease -- 56. Hypertension : research reveals genetic links -- 56.1. Research uncovers genetic clues to blood pressure -- 56.2. Study identifies new gene targets for hypertension treatment -- 56.3. Study identifies key genetic mechanisms that help control high blood pressure -- 57. Heredity and movement disorders -- 57.1. Genetics of essential tremor -- 57.2. Parkinson disease : genetic links -- 58. Genetic factors in obesity -- 58.1. Genes and obesity : basic facts -- 58.2. Obesity and genetics ; what we know -- 58.3. "Obesity genes" may influence food choices and eating habits -- 58.4. Genes identified for common childhood obesity -- 59. Stroke : genetic links -- 60. Genetics and Tourette syndrome.
	pt. V. Genetic research -- 61. The Human Genome Project -- 61.1. Basic facts about the Human Genome Project -- 61.2. Insights learned from the human DNA sequence -- 61.3. The Human Genome Project : current knowledge and future research directions -- 62. Behavioral genetics -- 63. Nutrigenomics : developing personalized diets for disease prevention -- 64. Pharmacogenomics -- 65. Gene therapy -- 65.1. What is gene therapy? -- 65.2. Gene therapy and children -- 65.3. Gene therapy for advanced Parkinson shows promise -- 65.4. Gene therapy for cancer : questions and answers.
	pt. VI. Information for parents of children with genetic disorders -- 66. When you baby has a birth defect -- 67. Tips for parenting a child with a disability -- 68. Early intervention : an overview -- 69. Assistive technology for young children -- 70. Education of children with special needs -- 70.1. Individualized education programs -- 70.2. Three ways parents can help their disabled child stay in school -- 70.3. Preparing for college : what students with disabilities need to know -- 71. Transition planning for children with special needs -- 71.1 Parent tips for transition planning -- 71.2. Assisting disabled youth with job search and retention -- 72. Government benefits for children and adults with disabilities -- 73. Estate planning for families of children with special needs -- 73.1. Estate planning : the first five things to do -- 73.2. Supplemental needs trusts -- pt. VII : Additional help and information -- 74. Glossary of terms related to human genetics -- 75. Sources of further help and information related to genetic disorders.
Subject	Human chromosome abnormalities -- Popular works.
	Genetic Diseases, Inborn. (DNLM)D030342
	Chromosome Aberrations. (DNLM)D002869
	Genetic Testing. (DNLM)D005820
	Human chromosome abnormalities. (OCoLC)fst00962907
Genre/Form	Resource Guide. (DNLM)D020507
	Popular Work. (DNLM)D020496
	Popular works. (OCoLC)fst01423846
Added Author	Judd, Sandra J.
ISBN	9780780813014 (hardcover ; alk. paper)
	0780813014 (hardcover ; alk. paper)

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