Advertisement

Table of contents

  1. Front Matter
    Pages i-xi
  2. Pages 1-6
  3. Pages 7-14
  4. Pages 15-22
  5. Pages 23-25
  6. Pages 26-28
  7. Pages 29-31
  8. Pages 32-35
  9. Pages 36-41
  10. Pages 56-60
  11. Pages 61-69
  12. Pages 92-95
  13. Pages 96-101
  14. Pages 102-107
  15. Pages 114-117
  16. Pages 118-121
  17. Pages 122-125
  18. Pages 131-135
  19. Pages 136-138
  20. Pages 149-152
  21. Pages 153-156
  22. Pages 157-160
  23. Pages 185-190
  24. Pages 191-194
  25. Pages 195-197
  26. Pages 207-211
  27. Pages 221-226
  28. Pages 236-240
  29. Pages 241-246
  30. Pages 256-260
  31. Pages 261-264

About this book

Introduction

Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 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. Also available in a CD-ROM edition (ISBN: 1-58829-974-5).
Authoritative and up-to-date, the Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes, and consequently better evaluate, counsel, and manage affected patients.

Authors and affiliations

  • HaroldĀ Chen
    • 1
  1. 1.Pediatrics, Obstetrics and Gynecology, and PathologyLouisiana State University Health Science CenterShreveport

Bibliographic information

  • DOI https://doi.org/10.1007/978-1-60327-161-5
  • Copyright Information Humana Press Inc. 2006
  • Publisher Name Humana Press
  • eBook Packages Medicine
  • Print ISBN 978-1-58829-681-8
  • Online ISBN 978-1-60327-161-5
  • Buy this book on publisher's site