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Atlas of Genetic Diagnosis and Counseling 1st Edition

ISBN-13: 978-1588296818
ISBN-10: 1588296814
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Editorial Reviews


"...a high quality book, with excellent clinical information." -Weighted Numerical Score: 81 - 3 Stars!-Doody's Health Science Book Review Journal


" excellent contribution to the field of dysmorphology.  It differs from others in the field in the simplicity of presentation of the information, which makes it useful to a wide variety of physicians." -Weighted Numerical Score: 81 - 3 Stars!-Doody's Health Science Book Review Journal


" neonatologists, obstetricians and pediatricians to reach a diagnosis and handle the genetic entity." - Pediatric Endocrinology Reviews

"...provide solid starting points for workers and will be especially valuable for students, residents, fellows, general practitioners, or others who do not encounter malformations regularly." -Pediatric and Developmental Pathology

From the Back Cover

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.


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