Chapter 1. Introduction

  1. Eric Engel,
  2. Stylianos E. Antonarakis

Published Online: 19 MAR 2002

DOI: 10.1002/0471221937.ch1

Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

How to Cite

Engel, E. and Antonarakis, S. E. (2002) Introduction, in Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471221937.ch1

Author Information

  1. Division of Medical Genetics, University of Geneva Medical School

Publication History

  1. Published Online: 19 MAR 2002
  2. Published Print: 15 OCT 2001

ISBN Information

Print ISBN: 9780471351269

Online ISBN: 9780471221937

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Keywords:

  • uniparental disomy;
  • isodisomy;
  • heterodisomy;
  • genomic imprinting

Summary

This introductory chapter includes the history of the concept and the first documented cases of uniparental disomy, an overview of the mechanisms and consequences of UPD, definitions of isodisomy and heterodisomy, a brief overview of genomic imprinting, and a discussion of the relationship between UPD and imprinting.