The Gale Encyclopedia of Genetic Disorders


This clearly written, well-organized reference has been designed to be accessible to the non-specialist interested in learning about genetic disorders. Among the over 430 entries are several on topics essential to the understanding of genetics, including chromosomes, genetic counseling, and genetic testing. Each entry includes a definition, description, image of the genetic profile, and discussion of the disorder's demographics, signs and symptoms, diagnosis, treatment and management, and prognosis. A list of ...
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This clearly written, well-organized reference has been designed to be accessible to the non-specialist interested in learning about genetic disorders. Among the over 430 entries are several on topics essential to the understanding of genetics, including chromosomes, genetic counseling, and genetic testing. Each entry includes a definition, description, image of the genetic profile, and discussion of the disorder's demographics, signs and symptoms, diagnosis, treatment and management, and prognosis. A list of print and electronic resources concludes each entry. Inset boxes contain definitions of key terms. Volume 2 contains a glossary, chromosome map, and organizations list. Color photos and drawings are included throughout. The contributors include medical writers, genetic counselors, and academics and practitioners in genetics and medicine, who are mainly in the US and Canada. Annotation ©2005 Book News, Inc., Portland, OR
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Editorial Reviews

Library Journal
Designed primarily for lay readers but also useful for professionals, this second edition (the first came out in 2002) offers thorough and well-structured coverage of more than 400 conditions with genetic origins or connections, among them the well known (e.g., Down syndrome, sickle cell disease) and the lesser known (e.g., neuraminidase deficiency, cadasil). It also includes entries, such as "Gene Mutations" and "Oncogene," that explain or amplify concepts important to understanding the broad topic of genetics. The entries range from 1500 to 5000 words in length, with each including the following subheadings: "Definition," "Description," "Genetic Profile," "Demographics," "Signs and Symptoms," "Diagnosis," "Treatment and Management," "Prognosis," and "Prevention." Most entries are accompanied by a box containing key terms with definitions specific to that entry as well as a list of resources-books, periodicals, organizations, and web sites. Some entries have pedigree charts, explained by a symbol guide at the front of each volume; others, such as "Muscular Dystrophy," that encompass a variety of conditions are briefly discussed under the broader term where readers might logically look for them as well as in individual entries. The text was written by 89 contributors, ranging from medical students to genetic counselors to medical school professors, and was supervised by an eight-person advisory board. Along with the index, which includes an abundance of See and See Also references, this volume contains 200 full-color photographs, a chromosome map, an alphabetical compilation of the organizations mentioned in the text, and an extensive glossary with definitions for lay readers. Bottom Line The disorders receive more detailed coverage here than in James Wynbrandt and Mark D. Ludman's Encyclopedia of Genetic Disorders and Birth Defects. Recommended for public, academic, and medical libraries. [This title is available in e-book format through Gale Virtual Reference Library.-Ed.]-Dick Maxwell, Porter Adventist Hosp. Lib., Denver Copyright 2005 Reed Business Information.
Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This is a detailed compilation of genetic information, describing n basic terms and simple language rare conditions as well as common disorders of genetic origin. The simplicity of the text and figures makes this an easy to read source of medical information. The alphabetical organization of the content makes the review of material easy. This second edition is a significant improvement over the first edition of this wonderful source of genetic information.
Purpose: The encyclopedia is designed as a source of information for the lay person. It fills the gap between basic health textbooks, medical guides, and the highly technical professional materials. The advisory board has met its goals completely. While providing detailed information, the book is and easy to read text that can be used by a variety of individuals not involved in the medical field. It can be used by patients or other professionals in need of complete information on genetic disorders without the technical details.
Audience: Written by geneticists, the encyclopedia is an accurate compilation of genetic information that represents broad coverage of the most common conditions and definitions seen in the field of medical genetics. Each entry is an in-depth review, but because of the simplicity of the language, the book can be used by the general public, high school students, undergraduate students in search of basic information, and genetic professionals in search of understandable material at the patient level. The advisory board represents a group of recognized, credible authorities in the field.
Features: The 430 entries are alphabetically arranged with coverage of the most common conditions seen in the field. The encyclopedia provides information about diagnosis, treatment, and natural history of each condition. It is comprehensive but as the authors indicate, "not definitive" due to the constant changes in the field of genetics. Each entry is organized into specific areas including: definition, description, genetic profile, demographics, signs and symptoms, diagnosis, treatment, prognosis, and resources. A wonderful tool in each entry is the Key Terms section. This is presented with a different color background and directs the reader to information that is essential for the understanding of each section. The figures and art work are simple and easy to understand without significant effort.
Assessment: This is an excellent and high quality publication. It's the first publication I've seen that brings the highly complicated field of medical genetics to the consumer level. It is easy to read, with a very attractive format. Updates of this wondeful publication will be needed in the future. This second edition was overdue and represents a tremendous contribution to the understanding of medical genetics for the general population.
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Product Details

  • ISBN-13: 9781414403663
  • Publisher: Cengage Gale
  • Publication date: 9/1/2005
  • Edition number: 2
  • Pages: 1563

Table of Contents

List of Entries
Advisory Board
Symbol Guide for Pedigree Charts
Volume 1: A-L
Volume 2: M-Z
Chromosome Map
Organizations List
General Index
Aarskog syndrome
Aase syndrome
Accutane embryopathy
Achoo syndrome
Acrocallosal syndrome
Adams-Oliver syndrome
Aicardi syndrome
Alagille syndrome
Alpha-1 antitrypsin
Alpha-thalassemia X-linked mental retardation syndrome
Alzheimer disease
Amyotrophic lateral sclerosis
Androgen insensitivity syndrome
Anemia, sideroblastic X-linked
Angelman syndrome
Ankylosing spondylitis
Apert syndrome
Arginase deficiency
Arnold-Chiari malformation
Arthrogryposis multiplex congenita
Arthropathy-camptodactyly syndrome
Asperger syndrome
Attention deficit hyperactivity disorder
Azorean disease
Bardet-Biedl syndrome
Batten disease
Beals syndrome
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome
Beta thalassemia
Bicuspid aortic valve
Biotinidase deficiency
Bipolar disorder
Bloom syndrome
Blue rubber bleb nevus syndrome
Branchiootorenal syndrome
Breast cancer
Bruton agammaglobulinemia
Campomelic dysplasia
Canavan disease
Cardiofaciocutaneous syndrome
Carnitine palmitoyltransferase deficiency
Carpenter syndrome
Caudal dysplasia
Celiac disease
Central core disease
Cerebral palsy
Charcot-Marie-Tooth disease
Charge syndrome
Chediak-Higashi syndrome
Chondrodysplasia punctata
Chromosomal abnormalities
Cleft lip and palate
Cleidocranial dysplasia
Cockayne syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cohen syndrome
Color blindness
Cone-rod dystrophy
Congenital adrenal hyperplasia
Congenital heart disease
Congenital hypothyroid syndrome
Conjoined twins
Corneal dystrophy
Cornelia de Lange syndrome
Corpus callosum agenesis
Costello syndrome
Crane-Heise syndrome
Cri du chat syndrome
Crouzon syndrome
Cystic fibrosis
Dandy-Walker malformation
Deletion 22q11 syndrome
Dentatorubral-pallidoluysian atrophy
Diastrophic dysplasia
Distal arthrogryposis syndrome
Donohue syndrome
Down syndrome
Duane retraction syndrome
Dubowitz syndrome
Duchenne muscular dystrophy
Ectodermal dysplasia
Ectrodactyly-ectodermal dysplasiaclefting
Ehlers-danlos syndrome
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy
Engelmann disease
Epidermolysis bullosa
Essential hypertension
Essential tremor
Fabry disease
Facioscapulohumeral muscular dystrophy
Factor V Leiden thrombophilia
Fahr disease
Familial adenomatous polyposis
Familial dysautonomia
Familial mediterranean fever
Familial nephritis
Fanconi-Bickel syndrome
Fanconi anemia
Fetal alcohol syndrome
FG syndrome
Fibroblast growth factor receptor mutations
Fluorescent in situ hybridization
Fragile X syndrome
Fraser syndrome
Freeman-Sheldon syndrome
Friedreich ataxia
Frontonasal dysplasia
Frontotemporal dementia
Fryns syndrome
Galacktokinase deficiency
Gastric cancer
Gaucher disease
Gene mutations
Gene pool
Gene therapy
Genetic counseling
Genetic disorders
Genetic mapping
Genetic testing
Genetics and congenital anomalies
Genitalia ambiguous
Genotype and phenotype
Glycogen storage diseases
Goltz syndrome
Greig cephalopolysyndactyly
Griscelli syndrome
Haim-Munk syndrome
Hair loss syndromes
Hallermann-Streiff syndrome
Hand-foot-uterus syndrome
Harlequin fetus
Hemifacial microsomia
Hemihypertrophy hemihyperplasia
Hemolytic-uremic syndrome
Hepatocellular carcinoma
Hereditary angioneurotic edema
Hereditary colorectal cancer
Hereditary desmoid disease
Hereditary hearing loss and deafness
Hereditary multiple exostoses
Hereditary pancreatitis
Hereditary spastic paraplegia
Hereditary spherocytosis
Hermansky-Pudlak syndrome
Hirschsprung disease
Holt-Oram syndrome
Human genome project
Huntington disease
Hydrolethalus syndrome
Hydrops fetalis
Hypospadias and epispadias
Incontinentia pigmenti
Infantile refsum disease
Jackson-Weiss syndrome
Jacobsen syndrome
Jervell and Lange-Nielsen syndrome
Joubert syndrome
Kabuki syndrome
Kallmann syndrome
Kartagener syndrome
Kennedy disease
Klinefelter syndrome
Klippel-Feil sequence
Klippel-Trenaunay-Weber syndrome
Krabbe disease
Larsen syndrome
Laterality sequence
Leber congenital amaurosis
Lebers hereditary optic atrophy
Leigh syndrome
Lesch-Nyhan syndrome
Li-Fraumeni syndrome
Limb-girdle muscular dystrophy
Long QT syndrome
Lowe oculocerebrorenal syndrome
Macular degeneration-age-related
Major histocompatibility complex
Malignant hyperthermia
Marfan syndrome
Marshall-Smith syndrome
Marshall syndrome
MCAD deficiency
Mccune-Albright syndrome
McKusick-Kaufman syndrome
Meckel-Gruber syndrome
Meckels diverticulum
Menkes syndrome
Metaphyseal dysplasia
Methylmalonic acidemia
Methylmalonicaciduria due to methylmalonic
coa mutase deficiency
Microphthalmia with linear skin defects
Miller-Dieker syndrome
Moebius syndrome
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
Muir-Torre syndrome
Multifactorial inheritance
Multiple endocrine neoplasias
Multiple epiphyseal dysplasia
Multiple lentigenes syndrome
Multiple sclerosis
Multiplex ligation-dependent probe
Muscular dystrophy
Myasthenia gravis
Myotonic dystrophy
Myotubular myopathy
Nail-patella syndrome
Nephrogenic diabetes insipidus
Neu-Laxova syndrome
Neural tube defects
Neuraminidase deficiency
Neuraminidase deficiency with betagalactosidase
Nevoid basal cell carcinoma
Niemann-Pick disease
Nijmegen breakage syndrome
Noonan syndrome
Norrie disease
Oculodentodigital syndrome
Oligohydramnios sequence
Opitz syndrome
Oral-facial-digital syndrome
Organic acidemias
Ornithine transcarbamylase deficiency
Osler-Weber-Rendu syndrome
Osteogenesis imperfecta
Otopalatodigital syndrome
Ovarian cancer
Paine syndrome
Pallister-Hall syndrome
Pallister-Killian syndrome
Pancreatic beta cell agenesis
Pancreatic cancer
Panic disorder
Parkinson disease
Paroxysmal nocturnal hemoglobinuria
Patent ductus arteriosus
Pedigree analysis
Pelizaeus-Merzbacher disease
Pendred syndrome
Pervasive developmental disorders
Peutz-Jeghers syndrome
Pfeiffer syndrome
Pierre Robin sequence
Pituitary dwarfism
Poland anomaly
Polycystic kidney disease
Polycystic ovary syndrome
Pompe disease
Prader-Willi syndrome
Prenatal ultrasound
Prion diseases
Progeria syndrome
Propionic acidemia
Prostate cancer
Proteus syndrome
Prune-belly syndrome
Pseudoxanthoma elasticum
Pyloric stenosis
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase complex deficiency
Pyruvate kinase deficiency
Raynauds disease
Refsum disease
Renal agenesis
Renal failure due to hypertension
Renpenning syndrome
Retinitis pigmentosa
Rett syndrome
Rheumatoid arthritis
Rhizomelic chondrodysplaia punctata
Rieger syndrome
Roberts SC phocomelia
Robinow syndrome
Rothmund-Thomson syndrome
Rubinstein-Taybi syndrome
Russell-Silver syndrome
Saethre-Chotzen syndrome
Schinzel-Giedion syndrome
Schwartz-Jampel syndrome
Sclerosing bone dysplasias
Sebastian syndrome
Seckel syndrome
Septo-optic dysplasia
Severe combined immunodeficiency
Short-rib polydactyly
Shprintzen-goldberg craniosynostosis syndrome
Sickle cell disease
Simpson-Golabi-Behmel syndrome
Sjo¨gren Larsson syndrome
Skeletal dysplasia
Smith-Fineman-Myers syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Sotos syndrome
Spastic cerebral palsy
Spina bifida
Spinal muscular atrophy
Spinocerebellar ataxia
Spondyloepiphyseal dysplasia
SRY (sex determining region y)
Stargardt disease
Stickler syndrome
Sturge-Weber syndrome
Sutherland-Haan syndrome
Systemic elastorrhexis
Tangier disease
TAR syndrome
Tay-Sachs disease
Thalidomide embryopathy
Thanatophoric dysplasia
Thrombasthenia of Glanzmann and
Tourette syndrome
Treacher Collins syndrome
Trichorhinophalangeal syndrome
Triose phosphate isomerase deficiency
Trismus pseudocamptodactyly
Trisomy 8 mosaicism syndrome
Trisomy 13
Trisomy 18
Tuberous sclerosis complex
Turner syndrome
Urea cycle disorders
Urogenital adysplasia syndrome
Usher syndrome
Van der Woude syndrome
Vater association
Von Hippel-Lindau syndrome
Von Willebrand disease
Waardenburg syndrome
Walker-Warburg syndrome
Weaver syndrome
Weissenbacher-Zweymuller syndrome
Werner syndrome
Williams syndrome
Wilson disease
Wiskott-Aldrich syndrome
Wolf-Hirschhorn syndrome
Wolman disease
X-linked hydrocephaly
X-linked mental retardation
Xeroderma pigmentosum
XX male syndrome
XYY syndrome
Zellweger syndrome
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