Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling, 5th Edition

ISBN: 9780199329007
ISBN-10: 0199329001
Copyright: 2018
Edition: 5th
Author: Gardner, R. J. McKinlay, Amor, David J.,
Doody's Expert Review    Score: 100
Reviewer: Luis Escobar,  MD, MS  (Peyton Manning Children's Hospital)
Description
This is a magnificent update of the classic guide to chromosome disorders and how parents and patients should be informed. The authors address the complex transition from traditional karyotyping to molecular cytogenetics. It integrates the basic science and the clinical significance of the current knowledge of molecular cytogenetics. This fifth edition addresses the current challenging issue of copy number variants.
Purpose
The aim is to review the ongoing transition from classic cytogenetics and molecular karyotyping, including the current knowledge on duplication and deletion syndromes. It provides the base of knowledge that clinicians and genetic counselors need to discuss the current molecular cytogenetics. The authors accomplish this formidable task well.
Audience
It is clear from the preface that this book intends to serve several audiences. As the title suggests, it is a unique tool for genetic counseling groups. However, clinical geneticists, medical students, medical genetic residents, and pediatric residents will find it useful as well. It is an extensive review that will provide them with a detailed knowledge base to deal with molecular cytogenetic questions at multiple levels. The authors' recognition as experts in the field is well documented and their book meets the needs of the intended audience.
Features
This updated edition includes an extensive listing of deletion and duplication syndromes and reviews new information on copy number variants and their interpretation. Of particular interest to me is the overview of the roles of new molecular methodologies in prenatal and preimplantation diagnosis. The art in the book is carefully selected and new figures are of high quality. The list of references is very helpful and is summarized at the end of the book. The authors include a very important chapter as their introduction: "Elements of Medical Cytogenetics," which sets the tone for the discussion of new concepts in molecular cytogenetics.
Assessment
This unique book is a must-read, must-have book in genetic counseling and medical genetics. It is clear that this is an ongoing project as the knowledge on molecular cytogenetics evolves rapidly, necessitating future editions. The authors keep their goals and focus well delineated, which makes this book a wonderful tool.
Review Questionnaire
Range Question Score
1-10 Are the author's objectives met? 10
1-10 Rate the worthiness of those objectives. 10
1-5 Is this written at an appropriate level? 5
1-5 Is there significant duplication? (1=significant, 5=insignificant) 5
1-5 Are there significant omissions? (1=significant, 5=insignificant) 5
1-5 Rate the authority of the authors. 5
1-5 Are there sufficient illustrations? 5
1-5 Rate the pedagogic value of the illustrations. 5
1-5 Rate the print quality of the illustrations. 5
1-5 Are there sufficient references? 5
1-5 Rate the currency of the references. 5
1-5 Rate the pertinence of the references. 5
1-5 Rate the helpfulness of the index. 5
1-5 If important in this specialty, rate the physical appearance of the book N/A
1-10 Is this a worthwhile contribution to the field? 10
1-10 If this is a 2nd or later edition, is this new edition needed? 10