Genomic Imprinting and Uniparental Disomy in Medicine (eBook)

Clinical and Molecular Aspects

Eric Engel, Stylianos E. Antonarakis (Autoren)

eBook Download: PDF

2004 | 1. Auflage
304 Seiten
John Wiley & Sons (Verlag)
978-0-471-45913-2 (ISBN)

Infos

Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to date. Genomic Imprinting and Uniparental Disomy in Medicine features comprehensive overviews of a multitude of genetic disorders linked to UPD, with a strong emphasis on clinical consequences. This book will provide readers with the tools necessary to identify and treat diseases associated with nontraditional chromosomal inheritance.

Genomic Imprinting and Uniparental Disomy in Medicine features handy tables summarizing clinical phenotypes and chromosomal involvement in UPD, as well as clear illustrations on imprinting mechanisms and diagnostic testing. This authoritative, completely up-to-date practical reference will be useful for any clinical geneticist, genetic counselor, physician, or researcher encountering patients with such disorders or studying complex disease mechanisms.

Autor

Eric Engel M.D. is Honorary Professor of Medicine at the Geneva University School of Medicine in Geneva, Switzerland. He received his M.D. from the Geneva University School of Medicine in 1951. In the course of his career he has been a Research Fellow and Instructor of Medicine, Harvard Medical School, Professor of Medicine and head of the Genetic Center, Vanderbilt University School of Medicine, and finally, Professor of Medicine and Director of The Medical Institute of Genetics, Geneva University.

Inhalt

Foreword.

Preface.

Acknowledgements.

Introduction.

Detection of Uniparental Disomy and Imprinting by DNA Analysis.

Mechanisms Generating Uniparently Disomy and Genomic ImprintingDisorders.

Uniparental Disomy for Individual Human Chromosomes: Review ofCases.

"Old" and "New" Syndromes with Uniparental Disomy.

The Prader-(Labhardt)-Willi Syndrome.

The Angelman Syndrome (AS).

The Beckwith-Wiedemann Syndrome (BWS).

Genetic Counseling and Prenatal Diagnosis.

Genomic Imprinting in the Mouse.

Epilogue of an Unfinished Story.

Index.

Rezensionen

"...a thorough review...a great...reference..." (Journal of Genetic Counseling, Vol. 12, No. 3, June 2003)
Genomic Imprinting and Uniparental Disomy in Medicine will without any doubt become a classic in Human Genetics. Eric Engel and Stylianos Antonarakis have filled a gap in the litterature which will benefit both experts and students. Rather than sticking to purely scientific analyses of the phenomenon, they provide the reader a remarkable overview of the available knowledge on the subject, including a detailed discussion of known clinical examples, as well as real practical suggestions for the clinical genetics practice. Using simple and didactic schemes the different mechanisms of UPD are clearly explained for everybody to understand. For those not familiar with these rather frequent errors of nature the book will be an eye opener. --Jean-Jacques Cassiman, Center for Human Genetics, University of Leuven

Produkt-Details

• Erscheint lt. Verlag: 7.4.2004
• Sprache: englisch
• Themenwelt: Informatik ► Weitere Themen ► Bioinformatik
• Themenwelt: Medizin / Pharmazie ► Allgemeines / Lexika
• Themenwelt: Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
• Schlagworte: Biowissenschaften • Genetics • Genetik • Life Sciences • Medical Science • Medical Sciences Special Topics • Medizin • Spezialthemen Medizin
• ISBN-10: 0-471-45913-5 / 0471459135
• ISBN-13: 978-0-471-45913-2 / 9780471459132