Atlas of Genetic Diagnosis and Counseling

2. Auflage 2012
ISBN: 978-1-4614-1038-6
Verlag: Springer Netherlands

Buch, Englisch, 2224 Seiten, Mit Online-/Zugang, Format (B × H): 193 mm x 260 mm

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.

Zielgruppe

Professional/practitioner

Autoren/Hrsg.

Chen, Harold

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Medizinische Fachgebiete Pathologie, Cytopathologie, Histopathologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Molekulare Medizin, Zellbiologie

Inhaltsverzeichnis

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 leukoencephalopat