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  • Living reference work
  • © 2020

Atlas of Genetic Diagnosis and Counseling

Authors:

  • Easy to use outline format

  • Completely revised and expanded new edition

  • Extensive up-to-date literature review for each disorder

This is a preview of subscription content, access via your institution.

Table of contents (297 entries)

  1. Acardia

    • Harold Chen
  2. Achondrogenesis

    • Harold Chen
  3. Achondroplasia

    • Harold Chen
  4. Adams-Oliver Syndrome

    • Harold Chen
  5. Agnathia

    • Harold Chen
  6. Aicardi Syndrome

    • Harold Chen
  7. Alagille Syndrome

    • Harold Chen
  8. Albinism

    • Harold Chen
  9. Ambiguous Genitalia

    • Harold Chen
  10. Angelman Syndrome

    • Harold Chen
  11. Apert Syndrome

    • Harold Chen
  12. Ataxia-Telangiectasia

    • Harold Chen
  13. Atelosteogenesis

    • Harold Chen
  14. Autism

    • Harold Chen

About this book

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.

Authors and Affiliations

  • Department of Pediatrics, LSU Health Sciences Center, Shreveport, USA

    Harold Chen

About the author


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. 

Bibliographic Information

  • Book Title: Atlas of Genetic Diagnosis and Counseling

  • Authors: Harold Chen

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3

  • Publisher: Springer New York, NY

  • eBook Packages: Springer Reference Biomedicine & Life Sciences, Reference Module Biomedical and Life Sciences

  • Number of Pages: LX, 2224

  • Number of Illustrations: 454 b/w illustrations, 2018 illustrations in colour

  • Topics: Medical Genetics, Medical Genetics, Biomedical Research

  • Industry Sectors: Biotechnology, Health & Hospitals, Pharma