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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
  19. Harold Chen
    Pages 233-248
  20. Harold Chen
    Pages 249-256
  21. Harold Chen
    Pages 257-269
  22. Harold Chen
    Pages 271-281
  23. Harold Chen
    Pages 283-287
  24. Harold Chen
    Pages 289-294
  25. Harold Chen
    Pages 303-309
  26. Harold Chen
    Pages 311-322
  27. Harold Chen
    Pages 323-327
  28. Harold Chen
    Pages 329-335
  29. Harold Chen
    Pages 337-347
  30. Harold Chen
    Pages 349-352
  31. Harold Chen
    Pages 353-358
  32. Harold Chen
    Pages 359-366
  33. Harold Chen
    Pages 367-383
  34. Harold Chen
    Pages 385-390
  35. Harold Chen
    Pages 391-405
  36. Harold Chen
    Pages 407-415
  37. Harold Chen
    Pages 417-423
  38. Harold Chen
    Pages 425-434
  39. Harold Chen
    Pages 435-450
  40. Harold Chen
    Pages 475-484
  41. Harold Chen
    Pages 485-496
  42. Harold Chen
    Pages 497-503
  43. Harold Chen
    Pages 505-514
  44. Harold Chen
    Pages 515-520
  45. Harold Chen
    Pages 521-539
  46. Harold Chen
    Pages 541-552

About this book

Introduction

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.

Keywords

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

Authors and affiliations

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

Bibliographic information

  • DOI https://doi.org/10.1007/978-1-4939-2401-1
  • Copyright Information Springer Science+Business Media LLC 2017
  • Publisher Name Springer, New York, NY
  • eBook Packages Medicine
  • Print ISBN 978-1-4939-2400-4
  • Online ISBN 978-1-4939-2401-1
  • Buy this book on publisher's site