The Gale Encyclopedia of Genetic Disorders PDF
Preview The Gale Encyclopedia of Genetic Disorders
GALE The ENCYCLOPEDIA of G ENETIC DISORDERS THIRD EDITION GALE The ENCYCLOPEDIA of G ENETIC D ISORDERS T H I RD ED I T I O N LAURIE J. FUNDUKIAN, EDITOR GaleEncyclopediaofGeneticDisorders, ª2010Gale,CengageLearning ThirdEdition ALLRIGHTSRESERVED.Nopartofthisworkcoveredbythecopyrighthereinmaybe reproduced,transmitted,stored,orusedinanyformorbyanymeansgraphic, ProjectEditor:LaurieJ.Fundukian electronic,ormechanical,includingbutnotlimitedtophotocopying,recording, Editorial:KristinKey scanning,digitizing,taping,Webdistribution,informationnetworks,orinformation ProductManager:KateHanley storageandretrievalsystems,exceptaspermittedunderSection107or108ofthe1976 EditorialSupportServices:AndreaLopeman UnitedStatesCopyrightAct,withoutthepriorwrittenpermissionofthepublisher. IndexingServices:Factiva,aDowJonesCompany RightsAcquisitionandManagement:BarbMcNeil Forproductinformationandtechnologyassistance,contactusat andSusanRudoloph GaleCustomerSupport,18008774253. Forpermissiontousematerialfromthistextorproduct, Composition:EviAbouElSeoud submitallrequestsonlineatwww.cengage.com/permissions. Manufacturing:WendyBlurton Furtherpermissionsquestionscanbeemailedto Imaging:JohnWatkins [email protected] ProductDesign:PamGalbreath Whileeveryefforthasbeenmadetoensurethereliabilityoftheinformation presentedinthispublication,Gale,apartofCengageLearning,doesnotguaranteethe accuracyofthedatacontainedherein.Galeacceptsnopaymentforlisting;and inclusioninthepublicationofanyorganization,agency,institution,publication,service, orindividualdoesnotimplyendorsementoftheeditorsorpublisher.Errorsbroughtto theattentionofthepublisherandverifiedtothesatisfactionofthepublisherwillbe correctedinfutureeditions. LibraryofCongressCataloginginPublicationData Galeencyclopediaofgeneticdisorders,3rded./editedbyLaurieJ.Fundukian,editor. p.cm. Othertitle:Encyclopediaofgeneticdisorders Othertitle:Geneticdisorders Includesbibliographicalreferencesandindex. ISBN13:9781414476025(set) ISBN13:9781414476032(vol.1) ISBN13:9781414476049(vol.2) ISBN10:1414476027(set) [etc.] 1. Medicalgenetics Encyclopedias.2.Geneticdisorders Encyclopedias.I.Fundukian, LaurieJ.,1970 II.Title:Encyclopediaofgeneticdisorders.III.Title:Geneticdisorders. [DNLM:1.Genetics,Medical Encyclopedias English.2.GeneticDiseases,Inborn Encyclopedias English.3.GeneticPredispositiontoDisease Encyclopedias English. QZ13G15172011] RB155.5.G352011 6160.04203 dc22 2010002222 Gale 27500DrakeRd. FarmingtonHills,MI,483313535 ISBN13:9781414476025(set) ISBN10:1414476027(set) ISBN13:9781414476032(vol.1) ISBN10:1414476035(vol.1) ISBN13:9781414476049(vol.2) ISBN10:1414476043(vol.2) Thistitleisalsoavailableasanebook. ISBN13:9781414476056 ISBN10:1414476051 ContactyourGale,apartofCengageLearningsalesrepresentativeforordering information. Printed in China 1 2 3 4 5 6 7 14 13 12 11 10 CONTENTS List of Entries vii ............................................................... Introduction xv ................................................................... Advisory Board xvii ......................................................... Contributors xix . ............................................................... Symbol Guide forPedigree Charts xxiii ............. Entries A-Z..........................................................................1 Appendix Chromosome Map 1627 ............................................... Organizations 1635 ........................................................... Glossary 1643 ...................................................................... General Index 1705 ......................................................... GALE ENCYCLOPEDIA OF GENETIC DISORDERS 3 V LIST OF ENTRIES Amyotrophiclateralsclerosis Bicuspidaorticvalve A Androgeninsensitivitysyndrome Biotinidasedeficiency Anemia,sideroblasticX-linked Bipolardisorder 22q13deletionsyndrome Anencephaly Birt-Hogg-Dube´ syndrome Aarskogsyndrome Angelmansyndrome Bloomsyndrome Aasesyndrome Ankylosingspondylitis Bluerubberblebnevussyndrome Abetalipoproteinemia Apertsyndrome Brachydactyly Absenceofvasdeferens Arginasedeficiency Branchiootorenalsyndrome Acardia Arnold–Chiarimalformation Breastcancer Accutaneembryopathy Arthrogryposismultiplex Brutonagammaglobulinemia Aceruloplasminemia congenita Achondrogenesis Arthropathy-camptodactyly Achondroplasia syndrome C ACHOOsyndrome Aspergersyndrome Acrocallosalsyndrome Campomelicdysplasia Asplenia Acromegaly Canavandisease Asthma Adams-Oliversyndrome Cancer Astrocytoma Adelaide-typecraniosynostosis Cancergenetics Ataxia–Telangiectasia Adenylosuccinatelyasedeficiency Cardiofaciocutaneoussyndrome Attentiondeficithyperactivity Adrenoleukodystrophy disorder Carnitinepalmitoyltransferase Aicardisyndrome deficiency Autism ALAdehydratasedeficiency Carpentersyndrome Azoreandisease Alagillesyndrome Caudaldysplasia Albinism Caylercardiofacialsyndrome Alcoholism B Celiacdisease AlexanderDisease Centralcoredisease Alkaptonuria Bu¨rger-Gru¨tzsyndrome Cerebralautosomaldominant Alpha-1antitrypsin Bardet-Biedlsyndrome arteriopathywithsubcortical Alpha-thalassemiaX-linked Barthsyndrome infarctsandleukoencephalopathy mentalretardationsyndrome Bassen-Kornzweigsyndrome Cerebralpalsy Alstromsyndrome Battendisease Channelopathies Alzheimerdisease Bealssyndrome Charcot–Marie–Toothdisease Amelia Beare-Stevensoncutisgyrata Chargesyndrome Amelogenesisimperfecta syndrome Chediak-Higashisyndrome Amniocentesis Beckwith–Wiedemannsyndrome Chondrodysplasiapunctata Amyoplasia Betathalassemia Chondrosarcoma GALE ENCYCLOPEDIA OF GENETIC DISORDERS 3 vii s Choroideremia Dentatorubral-pallidoluysian Familialpulmonaryarterial e tri Chromosomalabnormalities atrophy hypertension n E Chromosome Depression Fanconianemia f o t ChromosomeMap Diabetes Fanconi-Bickelsyndrome s Li Cleftlipandpalate Diastrophicdysplasia Fetalalcoholsyndrome Cleidocranialdysplasia Distalarthrogryposissyndrome FGsyndrome Clubfoot DNA(deoxyribonucleicacid) Fibroblastgrowthfactorreceptor Donohuesyndrome Cockaynesyndrome mutations Downsyndrome Coffin-Lowrysyndrome Fluorescentinsituhybridization Duaneretractionsyndrome Coffin-Sirissyndrome FragileXsyndrome Dubowitzsyndrome Cohensyndrome Frasersyndrome Duchennemusculardystrophy Collagenopathy,typesIIandXI Freeman-Sheldonsyndrome Dyschondrosteosis Coloboma Friedreichataxia Dysplasia Colorblindness Frontonasaldysplasia Dystonia Compressionneuropathy Frontotemporaldementia Cone–roddystrophy Frynssyndrome Congenitaladrenalhyperplasia E Congenitalheartdisease Congenitalhypothyroid Ectodermaldysplasia G syndrome Ectrodactyly-ectodermal Congenitalmethemoglobinemia dysplasia-cleftingsyndrome Galacktokinasedeficiency Conjoinedtwins Ehlers-Danlossyndrome Galactosemia Conotruncalanomalyface Ellis-vanCreveldsyndrome Gastriccancer syndrome Emery-Dreifussmuscular Gastroschisis Cornealdystrophy dystrophy Gaucherdisease CorneliadeLangesyndrome Encephalocele Gene Corpuscallosum,agenesis Engelmanndisease Genemutations Costellosyndrome Entrapmentneuropathy Genepool Cowdensyndrome Epidermolysisbullosa Crane-Heisesyndrome Epilepsy Genetherapy Craniosynostosis Erythropoieticprotoporphyria Geneticcounseling Criduchatsyndrome Erythropoieticporphyria Geneticdisorders Crouzonsyndrome Essentialhypertension Geneticmapping Crouzonodermoskeletal Essentialtremor Genetictesting syndrome Geneticsandcongenital Cysticfibrosis anomalies Cystinosis F Genitalia,ambiguous Cystinuria Genotypeandphenotype Fabrydisease Gerstmann-Straussler-Scheinker Facioscapulohumeralmuscular disease dystrophy D Glaucoma FactorVLeidenthrombophilia Glycogenstoragediseases Dandy-Walkermalformation Fahrdisease DeGrouchySyndrome Familialadenomatouspolyposis GM1-gangliosidosis Deletion22q11syndrome Familialdysautonomia Goltzsyndrome Dementia FamilialMediterraneanfever Greigcephalopolysyndactyly Dent’sdisease Familialnephritis Griscellisyndrome viii GALE ENCYCLOPEDIA OF GENETIC DISORDERS 3 LongQTsyndrome L H I Loweoculocerebrorenal ist o syndrome f E Haim-Munksyndrome Ichthyosis n t r Hairlosssyndromes Imprinting ie s Hallermann-Streiffsyndrome Incontinentiapigmenti M Hand-foot-uterussyndrome Infantilerefsumdisease Harlequinfetus Inheritance Machado-Josephdisease Hemifacialmicrosomia Maculardegeneration—age-related Hemihypertrophy Majorhistocompatibilitycomplex (Hemihyperplasia) J Malignanthyperthermia Hemochromatosis Mannosidosis Jackson-Weisssyndrome Hemolytic-uremicsyndrome Marfansyndrome Jacobsensyndrome Hemophilia Marshallsyndrome JervellandLange-Nielsen Hepatocellularcarcinoma Marshall-Smithsyndrome syndrome Herceptin MCADdeficiency Joubertsyndrome Hereditaryangioneuroticedema McCune–Albrightsyndrome Hereditarycolorectalcancer McKusick-Kaufmansyndrome HereditaryCoproporphyria Meckel’sdiverticulum K Hereditarydesmoiddisease Meckel-Grubersyndrome Hereditaryhearingloss Kabukisyndrome Menkessyndrome anddeafness Kallmannsyndrome Metaphysealdysplasia Hereditarymultipleexostoses Kartagenersyndrome Methylmalonicacidemia HereditaryNonpolyposis Karyotype Methylmalonicaciduriadueto ColorectalCancer Kennedydisease methylmalonicCoAmutase Hereditarypancreatitis deficiency Klinefeltersyndrome Hereditaryspasticparaplegia MicroSyndrome Klippel–Feilsyndrome Hereditaryspherocytosis Microcephaly(childhood) Klippel-Trenaunay-Weber Hermansky-Pudlaksyndrome syndrome Microphthalmiawithlinearskin Hermaphroditism defects(MLS) Kniestdysplasia Hirschsprungdisease Miller-Diekersyndrome Krabbedisease Holoprosencephaly Moebiussyndrome Holt-Oramsyndrome Monosomy1p36syndrome Homocystinuria L Mowat-WilsonSyndrome HumanGenomeProject Moyamoya Huntingtondisease Langer-Saldinoachondrogenesis Mucolipidosis Hydrocephalus Larsensyndrome Mucopolysaccharidoses Hydrolethalussyndrome Lateralitysequence MucopolysaccharidosistypeI Hydropsfetalis Lebercongenitalamaurosis MucopolysaccharidosistypeII Hyperlipoproteinemia Lebershereditaryopticatrophy Muir-Torresyndrome Hyperoxaluria Leighsyndrome Multifactorialinheritance Hyperphenylalaninemia Lesch-Nyhansyndrome Multipleendocrineneoplasias Hypochondrogenesis Leukodystrophy Multipleepiphysealdysplasia Hypochondroplasia Li-Fraumenisyndrome Multiplelentigenessyndrome Hypophosphatasia Limb-girdlemusculardystrophy Multiplesclerosis Hypophosphatemia Lipoproteinlipasedeficiency Multiplexligation-dependent Hypospadiasandepispadias Lissencephaly probeamplification GALE ENCYCLOPEDIA OF GENETIC DISORDERS 3 ix
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