Chapter 5. “Old” and “New” Syndromes with Uniparental Disomy

  1. Eric Engel,
  2. Stylianos E. Antonarakis

Published Online: 19 MAR 2002

DOI: 10.1002/0471221937.ch5

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) “Old” and “New” Syndromes with Uniparental Disomy, in Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471221937.ch5

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:

  • neonatal transient diabetes mellitus;
  • Silver-Russell syndrome;
  • Wiedemann-Beckwith syndrome;
  • Prader-Willi syndrome;
  • Angelman syndrome;
  • maternal UPD14;
  • paternal UPD14;
  • maternal UPD2;
  • maternal UPD16;
  • UPD6;
  • maternal UPD7;
  • UPD15

Summary

This chapter briefly describes the well-characterized syndromes associated with UPD such as neonatal transient diabetes mellitus (TNDM), Silver-Russell (SRS), Beckwith-Wiedemann (BWS), Prader-Willi (PWS), and Angelman syndromes (AS). In addition, recently characterized phenotypes associated with UPD, such as maternal and paternal UPD14 syndromes are described. Finally, evidence for maternal UPD2, and maternal UPD16 syndromes is presented.

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