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Atlas of Genetic Diagnosis and Counseling

Gespeichert in:
Bibliographische Angaben
Beteiligte: Chen, Harold,
Sprache: Englisch
Veröffentlicht:Totowa, NJ : Humana Press Inc, 2006
Schriftenreihe:SpringerLink : Bücher
Umfang:Online-Ressource (1088p. 2115 illus., 615 illus. in color, digital)
Bibliogr. Zusammenhang:Buchausg. u.d.T.: Chen, Harold : Atlas of genetic diagnosis and counseling. - Totowa, N.J. : Humana Press, 2006. - XI, 1076 S. 
ISBN:9781603271615
1603271619
9781588296818
1588296814
1592599567
9781592599561
Anmerkungen:Includes bibliographical references
Schlagwörter:
Diagnose
Erbkrankheit
Genetische Beratung
Pränatale Diagnostik
Medicine
Pathology
Medicine & Public Health
Genetic Diseases, Inborn > Atlases
Genetic Counseling > Atlases
Prenatal Diagnosis > Atlases
Atlas
Basisklassifikation:

44.48 Medizinische Genetik

DOI:

10.1007/978-1-60327-161-5

wird zitiert von: 26 Titel im Zitationsindex COCI
Mehr zum Titel: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
Zusammenfassung: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).