1646742877  

Atlas of Genetic Diagnosis and Counseling / by Harold Chen

Englisch

Totowa, NJ : Humana Press Inc, 2006

Online-Ressource (1088p. 2115 illus., 615 illus. in color, digital)

Includes bibliographical references

Buchausg. u.d.T.: Chen, Harold: Atlas of genetic diagnosis and counseling. - Totowa, N.J. : Humana Press, 2006. - XI, 1076 S.

978-1-60327-161-5

Weitere Ausgaben: 978-1-58829-681-8 (Druckausgabe)

DOI: 10.1007/978-1-60327-161-5

Front Matter; Acardia; Achondrogenesis; Achondroplasia; Adams-Oliver Syndrome; Agnathia; Aicardi Syndrome; Alagille Syndrome; Albinism; Amniotic Band Syndrome; Androgen Insensitivity Syndrome; Angelman Syndrome; Apert Syndrome; Aplasia Cutis Congenita; Arthrogryposis Multiplex Congenita; Asphyxiating Thoracic Dystrophy; Ataxia Telangiectasia; Atelosteogenesis; Autism; Beckwith-Wiedemann Syndrome; Behcet Disease; Bladder Exstrophy; Body Stalk Anomaly; Branchial Cleft Anomalies; Campomelic Dysplasia; Cat Eye Syndrome; Cerebro-Costo-Mandibular Syndrome; Charcot-Marie-Tooth Disease

CHARGE AssociationCherubism; Chiari Malformation; Chondrodysplasia Punctata; Chromosome Abnormalities in Pediatric Solid Tumors; Cleft Lip and/or Cleft Palate; Cleidocranial Dysplasia; Cloacal Exstrophy; Collodion Baby; Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency); Congenital Cutis Laxa; Congenital Cytomegalovirus Infection; Congenital Generalized Lipodystrophy; Congenital Hydrocephalus; Congenital Hypothyroidism; Congenital Muscular Dystrophy; Congenital Toxoplasmosis; Conjoined Twins; Corpus Callosum Agenesis/Dysgenesis; Craniometaphyseal Dysplasia; Cri-Du-Chat Syndrome

Crouzon SyndromeCystic Fibrosis; Dandy-Walker Malformation; De Lange Syndrome; Del(22q11.2) Syndromes; Diabetic Embryopathy; Down Syndrome; Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic Dysplasia; Dysmelia (Limb Deficiency/Reduction); Dysplasia Epiphysealis Hemimelica; Dystonia; Dystrophinopathies; Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome; Ehlers-Danlos Syndrome; Ellis-van Creveld Syndrome; Enchondromatosis (Maffucci Syndrome; Ollier Syndrome); Epidermolysis Bullosa; Epidermolytic Palmoplantar Keratoderma; Faciogenital (Aarskog) Dysplasia

Facioscapulohumeral Muscular DystrophyFamilial Adenomatous Polyposis; Familial Hyperlysinemia; Fanconi Anemia; Femoral Hypoplasia-Unusual Facies Syndrome; Fetal Akinesia Sequence; Fetal Alcohol Syndrome; Fetal Hydantoin Syndrome; Fibrodysplasia Ossificans Progressiva; Finlay-Marks Syndrome; Fragile X Syndrome; Fraser Syndrome; Freeman-Sheldon Syndrome; Frontonasal Dysplasia; Galactosemia; Gastroschisis; Gaucher Disease; Generalized Arterial Calcification of Infancy; Glucose-6-Phosphate Dehydrogenase Deficiency; Glycogen Storage Disease, Type II; Goldenhar Syndrome; Hallermann-Streiff Syndrome

Harlequin Ichthyosis (Harlequin Fetus)Hemophilia A; Hereditary Hemochromatosis; Hereditary Multiple Exostoses; Holoprosencephaly; Holt-Oram Syndrome; Hydrops Fetalis; Hyper-IgE Syndrome; Hypochondroplasia; Hypoglossia-Hypodactylia Syndrome; Hypohidrotic Ectodermal Dysplasia; Hypomelanosis of Ito; Hypophosphatasia; Incontinentia Pigmenti; Infantile Myofibromatosis; Ivemark Syndrome; Jarcho-Levin Syndrome; Kabuki Syndrome; Kasabach-Merritt Syndrome; KID Syndrome; Klinefelter Syndrome; Klippel-Feil Syndrome; Klippel-Trenaunay Syndrome; Kniest Dysplasia; Larsen Syndrome; LEOPARD Syndrome

Lesch-Nyhan Syndrome

ArcadiaAchondrogenesis -- Achondroplasia -- Adams-Oliver syndrome -- Agnathia -- Aicardi syndrome -- Alagille syndrome -- Albinism -- Amniotic band syndrome -- Androgen insensitivity syndrome -- Angelman syndrome -- Apert syndrome -- Aplasia cutis congenita -- Arthrogryposis multiplex congenita -- Asphyxiating thoracic dystrophy -- Ataxia telangiectasia -- Atelosteogenesis -- Autism -- Beckwith-Wiedemann syndrome -- Behcet disease -- Bladder exstrophy -- Body stalk anamoly -- Branchial clefts anamolies -- Campomelic dysplasia -- Cat eye syndrome -- Cerebro-costo-mandibular syndrome -- Charcot-Marie-Tooth disease -- CHARGE Association -- Cherubism -- Chiari malformation -- Chondrodysplasia punctata -- Chromosome abnormalities in pediatric solid tumors -- Cleft lip and/or cleft palate -- Cleidocranial dysplasia -- Cloacal exstrophy -- Collodion baby -- Congenital adrenal hyperplasia (21-hydroxylase deficiency) -- Congenital cutis laxa -- Congenital cytomegalovirus infection -- Congenital generalized lipodystrophy -- Congenital hydrocephalus -- Congenital hypothyriodism -- Congenital muscular dystrophy -- Congenital toxoplasmosis -- Conjoined twins -- Corpus callosum agenesis/dysgenesis -- Craniometaphysical dysplasia -- Cri-du-chat syndrome -- Crouzon syndrome -- Cystic fibrosis -- Dandy-Walker malformation -- De Lange syndrome -- Del(22q11.2) syndromes -- Diabetic embryopathy -- Down syndrome -- Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic dysplasia -- Dysmelia (limb deficiency/reduction) -- Dysplasia epiphysealis hemimelica -- Dystonia -- Dystrophinopathies -- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome -- Dhlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Enchondromatosis (Maffucci syndrome; Ollier syndrome) -- Epidermolysis bullosa -- Epidermolytic palmoplantar keratoderma -- Faciogenital (Aarskog) dysplasia -- Facioscapulohumeral muscular dystrophy -- Familial adenomatous polyposis -- Familial hyperlysinemia -- Fanconi anemia -- Femoral hypoplasia-unusual facies syndrome -- Fetal akinesia syndrome -- Fetal alcohol syndrome -- Fibrodysplasia ossificans progressiva -- Finlay-Marks syndrome -- Fragile X syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Frontonasal dysplasia -- Galactosemia -- Gastroschisis -- Gaucher disease -- Generalized arterial calcification of infancy -- Glucose 6-phosphate dehydrogenase deficiency -- Glycogen storage disease, type II -- Goldenhar syndrome -- Hallermann-Streiff syndrome -- Harlequin ichthyosis (harlequin fetus) -- Hemophilia A -- Hereditary hemochromatosis -- Hereditary multiple exostoses -- Holoprosencephaly -- Holt-Oram syndrome -- Hydrops fetalis -- Hyper-IgE syndrome -- Hypochondroplasia -- Hypoglossia-hypodactylia syndrome -- Hypohidrotic ectodermal dysplasia -- Hypomelanosis of Ito -- Hypophosphatasia -- Incontinentia pigmenti -- Infantile myofibromatosis -- Ivemark syndrome -- Jarcho-Levin syndrome -- Kabuki syndrome -- Kasabach-Merritt syndrome -- KID syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay syndrome -- Kniest dysplasia -- Larsen syndrome -- LEOPARD syndrome -- Lesch-Nyhan syndrome -- Lethal multiple pterygium syndrome -- Lowe syndrome -- Marfan syndrome -- McCune-Albright syndrome -- Meckel-Gruber syndrome -- Menkes disease (Kinky-hair syndrome) -- Metachromatic leukodystrophy -- Miller-Dieker syndrome -- Möbius syndrome -- Mucolipidosis II (I-cell disease) -- Mucolipidosis III (pseudo-Hurler polydystrophy) -- Mucopolysaccharidosis I (MPS I) (alpha-L-iduronidase deficiency) : Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) syndromes -- Mucopolysaccharidosis II (Hunter syndrome) -- Mucopolysaccharidosis III (Sanfilippo syndrome) -- Mucopolysaccharidosis IV (Morquio syndrome) -- Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) -- Multiple epiphyseal dysplasia -- Multiple pterygium syndrome -- Myotonic dystrophy type I -- Netherton syndrome -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis I -- Noonan syndrome -- Oblique facial cleft syndrome -- Oligohydramnios sequence -- Omphalocele -- Osteogenesis imperfecta -- Osteopetrosis -- Pachyonychia congenita -- Pallister-Killian syndrome -- Phenylketonuria (PKU) -- Pierre Robin sequence -- Polycystic kidney disease, autosomal dominant type -- Polycystic kidney disease, autosomal recessive type -- Prader-Willi syndrome -- Progeria -- Prune belly syndrome -- Pseudoachondroplasia -- R(18) syndrome -- Retinoid embyopathy -- Rett syndrome -- Rickets -- Roberts syndrome -- Robinow syndrome -- Rubinstein-Taybi syndrome -- Schizencephaly -- Schmid metaphyseal chondrodysplasia -- Seckel syndrome -- Severe combined immune deficiency -- Short rib polydactyly sydromes -- Sickle cell disease -- Silver-Russell syndrome -- Sirenomelia -- Smith-Lemli-Opitz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- Spinal muscular atrophy -- Spondyloepiphyseal dysplasia -- Stickler syndrome -- Sturge-Weber syndrome -- Tay-Sachs disease -- Tetrasomy 9p syndrome -- Thalassemia -- Thanatophoric dysplasia -- Thrombocytopenia-absent radius syndrome -- Treacher-Collins syndrome -- Trimethylaminuria -- Triploidy -- Trismus pseudocamptodactyly syndrome -- Trisomy 13 syndrome -- Trisomy 18 syndrome -- Tuberous sclerosis -- Turner syndrome -- Twin-twin transfusion syndrome -- Ulnar-mammary syndrome -- VATER (VACTERL) Association -- Von Hippel-Lindau disease -- Waardenburg syndrome -- Williams syndrome -- Wolf-Hirschhorn syndrome -- X-linked ichthyosis -- XXX syndrome -- XXXXX syndrome -- XXXXY syndrome -- XY female -- XYY syndrome.

/ Diagnose / Erbkrankheit

/ Genetische Beratung

/ Pränatale Diagnostik

*Medicine ; Pathology ; Medicine & Public Health ; Pathology ; Medicine

*Genetic Diseases, Inborn ; Genetic Counseling ; Prenatal Diagnosis

QZ 17 ; QZ 50

Klassifikation der Library of Congress: RB1-214 ; RB155.6

Dewey Dezimal-Klassifikation: 616.07; ; 616/.042;

Regensburger Verbund-Klassifikation: XG 2300: X-Y Medizin / XG Pathologie / XG 1500-XG 4999 Allgemeine Pathologie und pathologische Anatomie / XG 2200-XG 2499 Allgemeine Pathologie der Missbildungen, Teratologie, Erbkrankheiten / Hand- und Lehrbücher, einführende Werke

Regensburger Verbund-Klassifikation: WG 7300: W Biologie / WG Genetik / WG 7000-WG 7400 Humangenetik / Genetische Beratung, positive Eugenik

Book Industry Communication: MMF

bisacsh: MED067000

Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. Also available in a CD-ROM edition (ISBN: 1-58829-974-5).

Der deutschlandweite Zugriff auf diesen Titel wird durch die Förderung der Deutschen Forschungsgemeinschaft ermöglicht und durch die Deutsche Zentralbibliothek für Medizin organisiert. Einzelpersonen mit ständigem Wohnsitz in der Bundesrepublik Deutschland können sich persönlich bei der Deutsche Zentralbibliothek für Medizin für einen kostenlosen Zugriff registrieren lassen, falls ihnen der Zugang über ein Universitätsnetz bzw. eine Wissenschaftliche Bibliothek nicht zur Verfügung steht: "http://www.nationallizenzen.de"

http://dx.doi.org/10.1007/978-1-60327-161-5 [E-books (Springer)]