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Atlas of Genetic Diagnosis and Counseling

Authors: Chen, Harold

  • Presents a completely revised and expanded new edition of a definitive work
  • Supports physicians and health care professionals with numerous color photographs and an easy to use outline format
  • Includes an extensive up-to-date literature review for each disorder
  • Shares the experience and knowledge of an expert in the field of clinical genetics
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eReference $929.00
price for USA (gross)
  • ISBN 978-1-4939-2401-1
  • Free shipping for individuals worldwide
Print + eBook $1,394.00
price for USA
  • ISBN 978-1-4939-2402-8
  • Free shipping for individuals worldwide
  • Online orders shipping within 2-3 days.
Print $929.00
price for USA
  • ISBN 978-1-4939-2400-4
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
About this Reference Work

Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 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.

Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use.

Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malform

ation syndromes and better evaluate, counsel, and manage affected patients.

About the authors

Harold Chen, MD
LSU Health Sciences Center, Department of Pediatrics Medicine, Shreveport, LA, USA

Table of contents (284 chapters)

  • Acardia

    Chen, Harold

    Pages 1-10

  • Achondrogenesis

    Chen, Harold

    Pages 11-22

  • Achondroplasia

    Chen, Harold

    Pages 23-39

  • Adams-Oliver Syndrome

    Chen, Harold

    Pages 41-48

  • Agnathia

    Chen, Harold

    Pages 49-60

Buy this book

eReference $929.00
price for USA (gross)
  • ISBN 978-1-4939-2401-1
  • Free shipping for individuals worldwide
Print + eBook $1,394.00
price for USA
  • ISBN 978-1-4939-2402-8
  • Free shipping for individuals worldwide
  • Online orders shipping within 2-3 days.
Print $929.00
price for USA
  • ISBN 978-1-4939-2400-4
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Atlas of Genetic Diagnosis and Counseling
Authors
Copyright
2017
Publisher
Springer-Verlag New York
Copyright Holder
Springer Science+Business Media LLC
eReference ISBN
978-1-4939-2401-1
Print + eBook ISBN
978-1-4939-2402-8
Print ISBN
978-1-4939-2400-4
Edition Number
3
Number of Pages
XXIII, 3080
Number of Illustrations and Tables
192 b/w illustrations, 1050 illustrations in colour
Topics