Authors:
Presents a completely revised and expanded new edition of a definitive work
Supports physicians and health care professionals with numerous color photographs and an easy to use outline format
Includes an extensive up-to-date literature review for each disorder
Shares the experience and knowledge of an expert in the field of clinical genetics
Includes supplementary material: sn.pub/extras
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Table of contents (284 entries)
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Front Matter
About this book
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 malform
ation syndromes and better evaluate, counsel, and manage affected patients.Authors and Affiliations
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Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, USA
Harold Chen
About the author
LSU Health Sciences Center, Department of Pediatrics Medicine, Shreveport, LA, USA
Bibliographic Information
Book Title: Atlas of Genetic Diagnosis and Counseling
Authors: Harold Chen
DOI: https://doi.org/10.1007/978-1-4939-2401-1
Publisher: Springer New York, NY
eBook Packages: Medicine, Reference Module Medicine
Copyright Information: Springer Science+Business Media LLC 2017
Hardcover ISBN: 978-1-4939-2400-4Published: 28 June 2017
eBook ISBN: 978-1-4939-2401-1Published: 27 June 2017
Edition Number: 3
Number of Pages: XXIII, 3080
Number of Illustrations: 192 b/w illustrations, 1050 illustrations in colour
Topics: Pathology, Pediatrics, Neurology