Book review: Atlas of Genetic Diagnosis and Counseling. 2nd ed.

by Harold Chen. Pub. by Springer 2012, 2472pp., €519. In 3 volumes, not available separately.
ISBN 978-1-4614-1036-2.

With almost 40 years of experience in clinical genetics, Dr Chen has shared his knowledge of almost 250 genetic disorders, malformations and malfunction syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counselling issues, including recurrence risk, prenatal diagnosis, and management. Numerous colour 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 lead to a better understanding and recognition of genetic diseases and malformation syndromes as well as better evaluation, counselling and management of 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.