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  • Reference work
  • © 2017

Atlas of Genetic Diagnosis and Counseling

Authors:

  • 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

  • Includes supplementary material: sn.pub/extras

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Table of contents (284 entries)

  1. Front Matter

    Pages i-xxiii
  2. Acardia

    • Harold Chen
    Pages 1-10
  3. Achondrogenesis

    • Harold Chen
    Pages 11-22
  4. Achondroplasia

    • Harold Chen
    Pages 23-39
  5. Adams-Oliver Syndrome

    • Harold Chen
    Pages 41-48
  6. Agnathia

    • Harold Chen
    Pages 49-60
  7. Aicardi Syndrome

    • Harold Chen
    Pages 61-66
  8. Alagille Syndrome

    • Harold Chen
    Pages 67-74
  9. Albinism

    • Harold Chen
    Pages 75-85
  10. Ambiguous Genitalia

    • Harold Chen
    Pages 95-109
  11. Androgen Insensitivity Syndrome

    • Harold Chen
    Pages 127-137
  12. Angelman Syndrome

    • Harold Chen
    Pages 139-150
  13. Apert Syndrome

    • Harold Chen
    Pages 151-169
  14. Aplasia Cutis Congenita

    • Harold Chen
    Pages 171-178
  15. Arthrogryposis Multiplex Congenita

    • Harold Chen
    Pages 179-198
  16. Asphyxiating Thoracic Dystrophy

    • Harold Chen
    Pages 199-212
  17. Ataxia-Telangiectasia

    • Harold Chen
    Pages 213-221
  18. Atelosteogenesis

    • Harold Chen
    Pages 223-231

About this book

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.

Authors and Affiliations

  • Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, USA

    Harold Chen

About the author

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

Bibliographic Information

  • Book Title: Atlas of Genetic Diagnosis and Counseling

  • Authors: Harold Chen

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1

  • Publisher: Springer New York, NY

  • eBook Packages: Medicine, Reference Module Medicine

  • Copyright Information: Springer Science+Business Media LLC 2017

  • Hardcover ISBN: 978-1-4939-2400-4Published: 28 June 2017

  • eBook ISBN: 978-1-4939-2401-1Published: 27 June 2017

  • Edition Number: 3

  • Number of Pages: XXIII, 3080

  • Number of Illustrations: 192 b/w illustrations, 1050 illustrations in colour

  • Topics: Pathology, Pediatrics, Neurology

  • Industry Sectors: Biotechnology, Finance, Business & Banking, Health & Hospitals, Pharma

Buy it now

Buying options

eBook USD 1,199.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book USD 1,699.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access