Atlas of Genetic Diagnosis and Counseling
Springer-Verlag New York Inc.
978-1-4614-1036-2 (ISBN)
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Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 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. In this new edition, 47 additional genetic disorders are added, as well as extensive updates made to the previous disorders. New illustrations, as previous edition, will be supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation.
Acardia
Achondrogenesis
Achondroplasia
Adams-Oliver syndrome
Agnathia
Aicardi syndrome
Alagille syndrome
Albinism
Alpha thalassemia-mental retardation (ATR-X) syndrome
Ambiguous genitalia
Amniotic deformity, adhesions, mutilations (ADAM) syndrome
Androgen insensitivity syndrome
Angelman syndrome
Apert syndrome
Aplasia cutis congenita
Arthrogryposis multiplex congenita
Asphyxiating thoracic dystrophy
Ataxia telangiectasia
Atelosteogenesis
Autism
Bannayan-Riley-Ruvalcaba syndrome
Beckwith-Wiedemann syndrome
Behcet disease
Biotinidase deficiency
Bladder exstrophy
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Body stalk anomaly
Brachydactyly
Branchial cleft cyst
Calcinosis cutis
Campomelic dysplasia
Carpenter syndrome
Cat-eye syndrome
Celiac disease
Cerebral palsy
Cerebro-costo-mandibular syndrome
Charcot-Marie-Tooth disease
CHARGE association
Cherubism
Chiari malformation
Chondrodysplasia punctata
Chromosome abnormalities in pediatric solid tumors
Cleft lip/palate
Cleidocranial dysplasia
Cloacal exstrophy
Clubfoot (talipes equinovarus)
Collodion baby
Congenital adrenal hyperplasia
Congenital cutis laxa
Congenital cytomegalovirus infection
Congenital generalized lipodystrophy
Congenital hemihyperplasia (congenital hemihypertrophy)
Congenital hydrocephalus
Congenital hypothyroidism
Congenital muscular dystrophy
Congenital toxoplasmosis
Conjoined twins
Corpus-callosum agenesis/dysgenesis
Craniometaphyseal dysplasia
Cri-du-chat syndrome
Crouzon syndrome
Cutis marmorata telangiectatica congenita
Cystic fibrosis
Dandy-Walker malformation
De Lange syndrome
Del(18p) syndrome
Del(22q11.2) syndrome
Del(Yq) syndrome
Diabetic embryopathy
Down syndrome
Duncan syndrome (X-linked lymphoproliferative disease)
Dyschondrosteosis/Langer mesomelic dysplasia
Dysmelia (limb deficiency/reduction)
Dysplasia epiphysealis hemimelica
Dystonia
Dystrophinopathies
EEC syndrome
Ehlers-Danlos syndrome
Ellis-van Creveld syndrome
Enchondromatosis
Epidermolysis bullosa
Epidermolytic palmoplantar keratoderma
Faciogenital (Aarskog) syndrome
Facioscapulohumeral muscular dystrophy (FSH)
Familial adenomatous polyposis syndrome
Familial hyperlysinemia
Familial Mediterranean fever
Fanconi anemia
Femoral hypoplasia-unusual facies syndrome
Fetal akinesia syndrome
Fetal alcohol syndrome
Fetal hydantoin syndrome
Fibrodysplasia ossificans progressiva
Finlay-Marks syndrome
Floppy infant
Fragile X syndrome
Fraser syndrome
Freeman-Sheldon (whistling face) syndrome
Friedreich ataxia
Frontonasal dysplasia
Galactosemia
Gastroschisis
Gaucher disease
Generalized arterial calcification
Genitopatellar syndrome
Giant congenital melanocytic nevi (giant congenital nevi)
Glucose-6-phosphate dehydrogenase deficiency
Glycogen storage disease, type II (Pompe)
Goldenhar syndrome
Gorlin (nevoid basal cell carcinoma) syndrome
Greig cephalopolysyndactyly syndrome
Hallermann-Streiff syndrome
Harlequin fetus
Hemophilia A
Hereditary hearing loss
Hereditary hemochromatosis
Hereditary multiple exostosis
Herlyn-Werner-Wunderlich syndrome
Holoprosencephaly
Holt-Oram syndrome
Huntington disease
Hydrolethalus syndrome
Hydrops fetalis
Hyper-IgE syndrome
Hypochondroplasia
Hypoglossia-hypodactyly (oromandibular limb hypogenesis) syndrome
Hypohidrotic ectodermal dysplasia
Hypomelanosis of Ito
Hypophosphatasia
Hypopituitarism
I(1p),I(1q) syndrome
Isodic(Yq) syndrome
Incontinentia pigmenti
Infantile myofibromatosis
Ivemark syndrome
Jarcho-Levin syndrome
Joubert syndrome
Kabuki syndrome
Kassback-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
Loeys-Dietz syndrome
Lowe syndrome
Marfan syndrome
McCune-Albright syndrome
Meckel-Gruber syndrome
Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease)
Menkes disease
Metachromatic leukodystrophy
Miller-Dieker syndrome
Mitochondrial Leber hereditary optic neuropathy
Mobius syndrome
Mowat-Wilson Disease
Mucolipidosis II (I-cell disease)
Mucolipidosis III (pseudo-Hurler Polydystrophy)
MPS I (Hurler syndrome)
MPS II (Hunter syndrome)
MPS III (Sanfilippo syndrome)
MPS IV (Morquio syndrome)
MPS VI (Maroteaux-Lamy syndrome)
Multiple endocrine neoplasia Syndrome
Multiple epiphyseal dysplasia
Multiple pterygium syndrome
Myotonic dystrophy
Nail-Patella Syndrome (hereditary Osteo-onychodysplasia)
Neonatal Herpes simplex infection
Nephrogenic diabetes insipidus
Netherton syndrome
Neu-Laxova syndrome
Neural tube defects
Neurofibromatosis 1
Neurofibromatosis 2
Noonan syndrome
Oblique facial cleft syndrome
Oligohydramnios sequence
Omphalocele
Oro-Facial-Digital Syndrome
Osteogenesis imperfecta
Osteopetrosis
Osteopoikilosis
Otopalatodigital spectrum disorders
Pachyonychia congenita
Pallister-Killian syndrome
Phenylketonuria (PKU)
Pierre Robin sequence
Polycystic kidney disease, AD form
Polycystic kidney disease, AR form
Popliteal pterygium syndrome
Prader-Willi syndrome
Progeria
Prune belly syndrome
Pseudoachondroplasia
R(18) syndrome
Retinoid embryopathy
Rett syndrome
Rickets
Rigid spine syndrome
Roberts syndrome
Robinow syndrome
Rubinstein-Taybi syndrome
Saethre-Chotzen syndrome
Sagittal synostosis associated with chromosome abnormalities
Schizencephaly
Schmid metaphyseal chondrodystrophy
Seckel syndrome
Severe combined immune deficiency
Short rib polydactyly syndromes (SRPS)
Sickle cell disease
Silver-Russell syndrome
Sirenomelia
Smith-Lemli-Optiz 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 (TAR) syndrome
Treacher-Collins syndrome
Trimethylaminuria
Triploidy
Trismus pseudocamptodactyly (Hecht syndrome)
Trisomy 8 mosaicism (Warkany) syndrome
Trisomy 13 syndrome
Trisomy 18 syndrome
Tuberous sclerosis
Turner syndrome
Twin-twin transfusion syndrome
Ulnar-mammary syndrome
Urofacial (Ochoa) Syndrome
VATER (VACTERL) association
Von Hippel-Lindau disease
Waardenburg syndrome
Weill-Marchesani syndrome
Williams syndrome
Wolf-Hirschhorn syndrome
X-linked agammaglobulinemia (Bruton type)
X-linked ichthyosis
XX Male
XXX syndrome
XXXXX syndrome
XXXXY syndrome
XY female
XYY syndrome
| Reihe/Serie | Atlas of Genetic Diagnosis and Counseling | 1.10 |
|---|---|
| Zusatzinfo | 2018 Illustrations, color; 454 Illustrations, black and white; LX, 2224 p. 2472 illus., 2018 illus. in color. |
| Verlagsort | New York, NY |
| Sprache | englisch |
| Themenwelt | Schulbuch / Wörterbuch ► Lexikon / Chroniken |
| Medizin / Pharmazie ► Medizinische Fachgebiete | |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| Studium ► 2. Studienabschnitt (Klinik) ► Pathologie | |
| Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie | |
| ISBN-10 | 1-4614-1036-3 / 1461410363 |
| ISBN-13 | 978-1-4614-1036-2 / 9781461410362 |
| Zustand | Neuware |
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