Genetic Disorders Sourcebook

Table of Contents
Preface
Part One—Introduction to Genetics
	Chapter 1—Cells and DNA: The Basics
	Chapter 2—How Genes Work
	Chapter 3—Genetic Mutations and Health
	Chapter 4—What Causes Genetic Disorders
	Chapter 5—Genetic Inheritance
	Chapter 6—Genetic Counseling
	Chapter 7—Genetic Testing
		Section 7.1—What You Need to Know about Genetic Testing
		Section 7.2—Noninvasive Prenatal Testing (NIPT)
		Section 7.3—Newborn Screening
		Section 7.4—Whole Exome Sequencing and Whole Genome Sequencing
		Section 7.5—What Are Secondary Findings from Genetic Testing?
	Chapter 8—Preventing Genetic Discrimination
Part Two—Disorders Resulting from Abnormalities in Specific Genes
	Chapter 9—Albinism
	Chapter 10—Alpha-1 Antitrypsin Deficiency
	Chapter 11—Blood Disorders (Hemoglobinopathies)
		Section 11.1—Hemochromatosis
		Section 11.2—Sickle Cell Disease
		Section 11.3—Thalassemia
	Chapter 12—Blood-Clotting Disorders
		Section 12.1—Factor V Leiden Thrombophilia
		Section 12.2—Hemophilia
		Section 12.3—von Willebrand Disease
	Chapter 13—CHARGE Syndrome
	Chapter 14—Connective Tissue Disorders
		Section 14.1—What Are Heritable Disorders of Connective Tissue?
		Section 14.2—Beals Syndrome (Congenital Contractural Arachnodactyly)
		Section 14.3—Ehlers-Danlos Syndrome
		Section 14.4—Marfan Syndrome
		Section 14.5—Osteogenesis Imperfecta
		Section 14.6—Stickler Syndrome
	Chapter 15—Cornelia de Lange Syndrome
	Chapter 16—Cystic Fibrosis
	Chapter 17—Endocrine Disorders
		Section 17.1—Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)
		Section 17.2—Congenital Hypothyroidism
		Section 17.3—Kallmann Syndrome
	Chapter 18—Growth Disorders
		Section 18.1—What Is Growth Disorder?
		Section 18.2—Achondroplasia
		Section 18.3—Dwarfism
		Section 18.4—Multiple Epiphyseal Dysplasia
		Section 18.5—Russell-Silver Syndrome
		Section 18.6—Thanatophoric Dysplasia
	Chapter 19—Heart Rhythm Disorders
		Section 19.1—Arrhythmia
		Section 19.2—Brugada Syndrome
		Section 19.3—Familial Atrial Fibrillation
		Section 19.4—Long QT Syndrome
	Chapter 20—Hereditary Deafness
		Section 20.1—Nonsyndromic Hearing Loss
		Section 20.2—Usher Syndrome
		Section 20.3—Waardenburg Syndrome
	Chapter 21—Huntington Disease
	Chapter 22—Hypohidrotic Ectodermal Dysplasia
	Chapter 23—Inborn Errors of Metabolism
		Section 23.1—General Information about Inborn Errors of Metabolism
		Section 23.2—Biotinidase Deficiency
		Section 23.3—Galactosemia
		Section 23.4—Hereditary Fructose Intolerance
		Section 23.5—Homocystinuria
		Section 23.6—Maple Syrup Urine Disease
		Section 23.7—Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
		Section 23.8—Methylmalonic Acidemia
		Section 23.9—Phenylketonuria
		Section 23.10—Tyrosinemia
		Section 23.11—Urea Cycle Defect
	Chapter 24—Kidney and Urinary System Disorders
		Section 24.1—Cystinuria
		Section 24.2—Polycystic Kidney Disease
	Chapter 25—Leukodystrophies
	Chapter 26—Lipid Storage Diseases
	Chapter 27—Mitochondrial Diseases
		Section 27.1—What Are Mitochondrial Diseases?
		Section 27.2—Multiple Mitochondrial Dysfunctions Syndrome
		Section 27.3—Mitochondrial Myopathy
	Chapter 28—Neurofibromatosis
	Chapter 29—Neuromuscular Disorders
		Section 29.1—What Are Neuromuscular Disorders?
		Section 29.2—Charcot-Marie-Tooth Disease
		Section 29.3—Early-Onset Primary Dystonia
		Section 29.4—Friedreich Ataxia
		Section 29.5—Hereditary Spastic Paraplegia
		Section 29.6—Muscular Dystrophy
		Section 29.7—Spinal Muscular Atrophy
	Chapter 30—Noonan Syndrome
	Chapter 31—Porphyria
	Chapter 32—Retinoblastoma
	Chapter 33—Rett Syndrome
	Chapter 34—Tuberous Sclerosis
	Chapter 35—Vision Disorders
		Section 35.1—Color Vision Deficiency
		Section 35.2—Early-Onset Glaucoma
		Section 35.3—Retinitis Pigmentosa
		Section 35.4—X-Linked Juvenile Retinoschisis
	Chapter 36—Wilson Disease
Part Three—Chromosome Abnormalities
	Chapter 37—An Overview of Chromosome Abnormalities
	Chapter 38—Angelman Syndrome
	Chapter 39—Cri-du-Chat Syndrome
	Chapter 40—Down Syndrome and Other Trisomy Disorders
		Section 40.1—Down Syndrome
		Section 40.2—Edwards Syndrome (Trisomy 18)
		Section 40.3—Patau Syndrome (Trisomy 13)
		Section 40.4—Triple X Syndrome
	Chapter 41—Fragile X Syndrome
	Chapter 42—Klinefelter Syndrome
	Chapter 43—Prader-Willi Syndrome
	Chapter 44—Smith-Magenis Syndrome
	Chapter 45—Turner Syndrome
	Chapter 46—Velocardiofacial Syndrome
	Chapter 47—Williams Syndrome
Part Four—Complex Disorders with Genetic and Environmental Components
	Chapter 48—Genes, Behavior, the Environment, and Health
	Chapter 49—The Genetics of Addiction
	Chapter 50—Alzheimer Disease and Genetics
		Section 50.1—Genes Related to Alzheimer Disease
		Section 50.2—People at Genetic Risk for Alzheimer Disease to Test Prevention Drugs
	Chapter 51—Asthma and Genetics
		Section 51.1—Basic Facts about Allergic Asthma
		Section 51.2—Genetics and Pollution Drive Severity of Asthma Symptoms
	Chapter 52—Cancer and Genetics
		Section 52.1—The Genetics of Cancer
		Section 52.2—Breast and Ovarian Cancer and Heredity
		Section 52.3—Colorectal (Colon) Cancer and Heredity
		Section 52.4—Lung Cancer and Genetics
		Section 52.5—Skin Cancer and Heredity
		Section 52.6—Genetic Risks for Prostate Cancer
	Chapter 53—Crohn Disease and Genetics
	Chapter 54—Mental Illness and Genetics
		Section 54.1—Looking at My Genes: What Can They Tell Me about My Mental Health?
		Section 54.2—Genetic Links in Bipolar Disorder
		Section 54.3—Genetic Links in Obsessive-Compulsive Disorder
		Section 54.4—Genetic Links in Schizophrenia
	Chapter 55—Diabetes and Genetics
		Section 55.1—Type 1 Diabetes
		Section 55.2—Type 2 Diabetes
	Chapter 56—Cardiovascular Disease and Heredity
		Section 56.1—Family History and Your Risk for Heart Disease
		Section 56.2—Genetics of Hypertension
		Section 56.3—Familial Hypercholesterolemia
	Chapter 57—Heredity and Movement Disorders
		Section 57.1—Genetics of Essential Tremor
		Section 57.2—Parkinson Disease: Genetic Links
	Chapter 58—Genetic Factors in Obesity
	Chapter 59—Family History and Risk for Stroke
	Chapter 60—Genetics and Tourette Syndrome
Part Five—Genetic Research
	Chapter 61—The Human Genome Project
	Chapter 62—Genomic Medicine
	Chapter 63—Gene Therapy
	Chapter 64—Pharmacogenomics
	Chapter 65—Next Steps in Genomic Research
	Chapter 66—DNA Sequencing
Part Six—Information for Parents of Children with Genetic Disorders
	Chapter 67—What Are Birth Defects?
	Chapter 68—Tips for Parenting a Child with a Disability
	Chapter 69—Early Intervention: An Overview
	Chapter 70—Rehabilitative and Assistive Technology
	Chapter 71—Education of Children with Special Needs
	Chapter 72—Transition Planning for Children with Special Needs
	Chapter 73—Government Benefits for Children and Adults with Disabilities
Part Seven—Additional Help and Information
	Chapter 74—Glossary of Terms Related to Human Genetics
	Chapter 75—Sources of Further Help and Information Related to Genetic Disorders
Index