Table of contents

  1. Front Matter
    Pages i-xxiii
  2. Harold Chen
    Pages 1-10
  3. Harold Chen
    Pages 11-22
  4. Harold Chen
    Pages 23-39
  5. Harold Chen
    Pages 41-48
  6. Harold Chen
    Pages 49-60
  7. Harold Chen
    Pages 61-66
  8. Harold Chen
    Pages 67-74
  9. Harold Chen
    Pages 75-85
  10. Harold Chen
    Pages 95-109
  11. Harold Chen
    Pages 127-137
  12. Harold Chen
    Pages 139-150
  13. Harold Chen
    Pages 151-169
  14. Harold Chen
    Pages 171-178
  15. Harold Chen
    Pages 179-198
  16. Harold Chen
    Pages 199-212
  17. Harold Chen
    Pages 213-221
  18. 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 malformation syndrom

es and better evaluate, counsel, and manage affected patients.


Cutaneous Vasculitis Gilbert Syndrome Hamangiomatosis I(18p) Syndrome Peutz-Jeghers Syndrome genetic disorders

Authors and affiliations

  1. 1.Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

About the authors

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
  • Copyright Information Springer Science+Business Media LLC 2017
  • Publisher Name Springer, New York, NY
  • eBook Packages Medicine Reference Module Medicine
  • Hardcover ISBN 978-1-4939-2402-8
  • eBook ISBN 978-1-4939-2401-1
  • Edition Number 3
  • Number of Pages XXIII, 3080
  • Number of Illustrations 192 b/w illustrations, 1050 illustrations in colour
  • Topics Pathology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals