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

About this book


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
  • 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
  • About this book