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Table of contents

  1. Front Matter
    Pages i-xx
  2. Pages 1-10
  3. Pages 11-20
  4. Pages 21-34
  5. Pages 41-48
  6. Pages 49-53
  7. Pages 55-60
  8. Pages 61-69
  9. Pages 77-86
  10. Pages 107-118
  11. Pages 119-133
  12. Pages 135-139
  13. Pages 167-173
  14. Pages 175-181
  15. Pages 183-195
  16. Pages 213-220
  17. Pages 221-226
  18. Pages 227-231
  19. Pages 239-244
  20. Pages 245-253
  21. Pages 261-265
  22. Pages 267-274
  23. Pages 275-278
  24. Pages 279-283
  25. Pages 285-289
  26. Pages 291-303
  27. Pages 323-330
  28. Pages 331-336
  29. Pages 337-343
  30. Pages 385-394
  31. Pages 395-399
  32. Pages 401-407
  33. Pages 409-413
  34. Pages 429-436

About this book

Introduction

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.

Keywords

cytogenetics human genetics

Editors and affiliations

  • Harold Chen
    • 1
  1. 1.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

Bibliographic information