Overview
Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels.
This book has been written for clinicians, scientists, counselors and teachers—and any other professionals desiring an understanding of modern medical genetics.
The book contains predominantly two-color and black-and-white illustrations, with some full color illustrations.
Synopsis
Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at preclinical and clinical level. This book has been written for those whom an understanding of modern medical genetics is important in their practice as clinicians, scientists, councellors and teachers.
Joel Charrow
This introductory text on medical genetics is divided into two major sections: basic principles and clinical applications. This is the fifth edition of this work; the fourth edition was published in 1993. The book is intended to be a textbook and a reference book on the basic principles of medical genetics and genetic disorders. The book is targeted primarily to medical and genetic counseling students, although the authors suggest it may be of value to clinicians, scientists, and teachers. It will probably be most useful in a setting where the basic principles section will be supplemented by a course in biochemistry, and where the clinical applications section will find use as the student begins to have clinical contact. Because of its brevity, it is not likely to be a useful reference for clinicians or scientists. The book is attractively crafted and nicely illustrated with numerous two-color illustrations and black-and-white photographs. The illustrations effectively supplement the text. A section of color plates contains a variety of photographs illustrating fluorescence in situ hybridization (FISH) techniques, and a few clinical photographs. The references are largely appropriate. There is a short glossary. Unfortunately, this edition does not contain the 100-question self-assessment section (with answers) that was present in the previous edition. This book succeeds in presenting many basic topics in medical genetics clearly and concisely. However, there are several important topics that do not receive adequate attention, such as imprinting, mitochondrial disorders, and uniparental disomy. Although the etiologies of numerous disorders are identified in the ClinicalApplications section of the book, there is little discussion of the mechanisms (molecular pathophysiology) underlying genetic disorders, particularly in the area of biochemical genetics, nor is there discussion of ""common themes"" (such as large-molecule substrate accumulation (storage disorders), small-molecule substrate accumulation, haploinsufficiency, dominant negative effects, etc. The book will be most useful as a medical student text, although there are a number of fine competing texts. Although the discussion of topics such as genetics of common diseases and congenital malformations are useful, most of the descriptions of genetic disorders are too short to be useful to a clinician.
Editorials
From The Critics
Reviewer: Joel Charrow, MD(Children's Memorial Hospital)Description: This introductory text on medical genetics is divided into two major sections: basic principles and clinical applications. This is the fifth edition of this work; the fourth edition was published in 1993.
Purpose: The book is intended to be a textbook and a reference book on the basic principles of medical genetics and genetic disorders.
Audience: The book is targeted primarily to medical and genetic counseling students, although the authors suggest it may be of value to clinicians, scientists, and teachers. It will probably be most useful in a setting where the basic principles section will be supplemented by a course in biochemistry, and where the clinical applications section will find use as the student begins to have clinical contact. Because of its brevity, it is not likely to be a useful reference for clinicians or scientists.
Features: The book is attractively crafted and nicely illustrated with numerous two-color illustrations and black-and-white photographs. The illustrations effectively supplement the text. A section of color plates contains a variety of photographs illustrating fluorescence in situ hybridization (FISH) techniques, and a few clinical photographs. The references are largely appropriate. There is a short glossary. Unfortunately, this edition does not contain the 100-question self-assessment section (with answers) that was present in the previous edition.
Assessment: This book succeeds in presenting many basic topics in medical genetics clearly and concisely. However, there are several important topics that do not receive adequate attention, such as imprinting, mitochondrial disorders, and uniparental disomy. Although the etiologies of numerous disorders are identified in the Clinical Applications section of the book, there is little discussion of the mechanisms (molecular pathophysiology) underlying genetic disorders, particularly in the area of biochemical genetics, nor is there discussion of "common themes" (such as large-molecule substrate accumulation (storage disorders), small-molecule substrate accumulation, haploinsufficiency, dominant negative effects, etc. The book will be most useful as a medical student text, although there are a number of fine competing texts. Although the discussion of topics such as genetics of common diseases and congenital malformations are useful, most of the descriptions of genetic disorders are too short to be useful to a clinician.
Joel Charrow
This introductory text on medical genetics is divided into two major sections: basic principles and clinical applications. This is the fifth edition of this work; the fourth edition was published in 1993. The book is intended to be a textbook and a reference book on the basic principles of medical genetics and genetic disorders. The book is targeted primarily to medical and genetic counseling students, although the authors suggest it may be of value to clinicians, scientists, and teachers. It will probably be most useful in a setting where the basic principles section will be supplemented by a course in biochemistry, and where the clinical applications section will find use as the student begins to have clinical contact. Because of its brevity, it is not likely to be a useful reference for clinicians or scientists. The book is attractively crafted and nicely illustrated with numerous two-color illustrations and black-and-white photographs. The illustrations effectively supplement the text. A section of color plates contains a variety of photographs illustrating fluorescence in situ hybridization (FISH) techniques, and a few clinical photographs. The references are largely appropriate. There is a short glossary. Unfortunately, this edition does not contain the 100-question self-assessment section (with answers) that was present in the previous edition. This book succeeds in presenting many basic topics in medical genetics clearly and concisely. However, there are several important topics that do not receive adequate attention, such as imprinting, mitochondrial disorders, and uniparental disomy. Although the etiologies of numerous disorders are identified in the ClinicalApplications section of the book, there is little discussion of the mechanisms (molecular pathophysiology) underlying genetic disorders, particularly in the area of biochemical genetics, nor is there discussion of ""common themes"" (such as large-molecule substrate accumulation (storage disorders), small-molecule substrate accumulation, haploinsufficiency, dominant negative effects, etc. The book will be most useful as a medical student text, although there are a number of fine competing texts. Although the discussion of topics such as genetics of common diseases and congenital malformations are useful, most of the descriptions of genetic disorders are too short to be useful to a clinician.2 Stars from Doody