Genetic Disorders Sourcebook, 7th Ed.

Description

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.

Sujets

• Santé et bien-être
• Santé du quotidien
• Santé au quotidien
• Santé au quotidien
• Fitness
• Genetics
• Health
• Genetic disorder
• Sourcebook

Informations

• Publié par: Infobase Publishing
• Date de parution: 01 avril 2019
• Nombre de lectures: 0
• EAN13: 9780780816961
• Langue: English
• Poids de l'ouvrage: 1 Mo

Extrait

Genetic Disorders
SOURCEBOOK
Seventh Edition
Health Reference Series
Genetic Disorders
SOURCEBOOK
Seventh Edition
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 Syn drome, 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 Chil dren with Genetic Disorders, a Glossary of Terms, and a Directory of Resources for Further Help and Information

615 Griswold, Ste. 520, Detroit, MI 48226
Bibliographic Note
Because this page cannot legibly accommodate all the copyright notices, the Bibliographic Note portion of the Preface constitutes an extension of the copyright notice.
 
* * *
OMNIGRAPHICS
Angela L. Williams, Managing Editor
 
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Copyright © 2019 Omnigraphics
 
ISBN 978-0-7808-1694-7
E-ISBN 978-0-7808-1696-1
 
 

Library of Congress Cataloging-in-Publication Data
Names: Omnigraphics, Inc., issuing body.
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.
Description: Seventh edition. | Detroit, MI: Omnigraphics, [2019] | Series: Health reference series | Includes index.
Identifiers: LCCN 2018061623 (print) | LCCN 2019000434 (ebook) | ISBN 9780780816961 (ebook) | ISBN 9780780816947 (hard cover: alk. paper)
Subjects: LCSH: Human chromosome abnormalities--Popular works.
Classification: LCC RB155.5 (ebook) | LCC RB155.5.G455 2019 (print) | DDC 616/.042--dc23
LC record available at https://lccn.loc.gov/2018061623
 
 
Electronic or mechanical reproduction, including photography, recording, or any other information storage and retrieval system for the purpose of resale is strictly prohibited without permission in writing from the publisher.
The information in this publication was compiled from the sources cited and from other sources considered reliable. While every possible effort has been made to ensure reliability, the publisher will not assume liability for damages caused by inaccuracies in the data, and makes no warranty, express or implied, on the accuracy of the information contained herein.

This book is printed on acid-free paper meeting the ANSI Z39.48 Standard. The infinity symbol that appears above indicates that the paper in this book meets that standard.
 
Printed in the United States
Table of Contents
Preface
Part I: 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 II: 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 III: 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 IV: 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 V: 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 VI: 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—Tr