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  • Reference work
  • © 2012

Atlas of Genetic Diagnosis and Counseling

Editors:

  1. Harold Chen

    1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, USA

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  • Easy to use outline format

  • Completely revised and expanded new edition

  • Extensive up-to-date literature review for each disorder

Sections

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Table of contents (255 entries)

  1. Front Matter

    Pages i-xx
    PDF

  2. Acardia

    Pages 1-10

  3. Achondrogenesis

    Pages 11-20

  4. Achondroplasia

    Pages 21-34

  6. Agnathia

    Pages 41-48

  7. Aicardi Syndrome

    Pages 49-53

  8. Alagille Syndrome

    Pages 55-60

  9. Albinism

    Pages 61-69

  11. Ambiguous Genitalia

    Pages 77-86

  14. Angelman Syndrome

    Pages 107-118

  15. Apert Syndrome

    Pages 119-133

  16. Aplasia Cutis Congenita

    Pages 135-139

  19. Ataxia-Telangiectasia

    Pages 167-173

  20. Atelosteogenesis

    Pages 175-181
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About this book

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.
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Keywords

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Editors and Affiliations

  • Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, USA

    Harold Chen

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Bibliographic Information

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