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

9780780810761
0780810767

Fourth edition

xviii, 759 pages ; 24 cm

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
Chapt

2009039792

772864

Judd, Sandra J