Chapter 4. Uniparental Disomy for Individual Human Chromosomes: Review of Cases

  1. Eric Engel,
  2. Stylianos E. Antonarakis

Published Online: 19 MAR 2002

DOI: 10.1002/0471221937.ch4

Book Title

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

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

Additional Information

How to Cite

Engel, E. and Antonarakis, S. E. (2002) Uniparental Disomy for Individual Human Chromosomes: Review of Cases, in Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471221937.ch4

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:

  • imprinting disorders;
  • isodisomy;
  • heterodisomy;
  • recessive disorders

Summary

This chapter presents a synopsis of the cases of UPD thus far observed for paternally or maternally inherited chromosomal pairs. Imprinting abnormalities have been documented for domains of 7 chromosomes (paternal 6,11,14,15 and maternal 7,14,15), and can be suspected for 2 more (maternal 2 and 16). UPD-isodisomy-related phenotypes resulting from homozygosity for a recessive mutant allele have been documented for over 20 genes.

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