Atlas of Genetic Diagnosis and Counseling

Authors: Chen, Harold

  • Easy to use outline format
  • Completely revised and expanded new edition
  • Extensive up-to-date literature review for each disorder
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  • ISBN 978-1-4614-1036-2
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eReference $699.00
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  • ISBN 978-1-4614-1037-9
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About this Reference Work

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.

Table of contents (255 chapters)

  • Acardia

    Pages 1-10

  • Achondrogenesis

    Pages 11-20

  • Achondroplasia

    Pages 21-34

  • Adams–Oliver Syndrome

    Pages 35-40

  • Agnathia

    Pages 41-48

Buy this book

Print n/a
  • ISBN 978-1-4614-1036-2
  • Free shipping for individuals worldwide
Print + eBook n/a
  • ISBN 978-1-4614-1038-6
  • Free shipping for individuals worldwide
eReference $699.00
price for USA (gross)
  • ISBN 978-1-4614-1037-9
  • Free shipping for individuals worldwide
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Bibliographic Information

Bibliographic Information
Book Title
Atlas of Genetic Diagnosis and Counseling
Authors
Copyright
2012
Publisher
Springer-Verlag New York
Copyright Holder
Springer Science+Business Media, LLC
Print ISBN
978-1-4614-1036-2
Print + eBook ISBN
978-1-4614-1038-6
eReference ISBN
978-1-4614-1037-9
Edition Number
2
Number of Pages
LX, 2224
Number of Illustrations and Tables
454 b/w illustrations, 2018 illustrations in colour
Topics