Chapter 9. Genetic Counseling and Prenatal Diagnosis

  1. Eric Engel,
  2. Stylianos E. Antonarakis
  1. Célia D. DeLozier-Blanchet Ph.D.

Published Online: 19 MAR 2002

DOI: 10.1002/0471221937.ch9

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) Genetic Counseling and Prenatal Diagnosis, in Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471221937.ch9

Author Information

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

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:

  • amniocentesis;
  • chorionic villus sampling;
  • risk for UPD;
  • mosaicism;
  • confined placental mosaicism;
  • translocations;
  • inversions;
  • fetal diagnosis;
  • imprinting syndromes

Summary

This chapter reviews genetic counseling of paternal UPD6 with TNDM, maternal UPD7 as a cause of SRS, maternal and paternal UPD14 and their respective phenotypes. We also discuss prenatal diagnosis and UPD related to chromosomal mosaicism and trisomy rescue, and to chromosomal abnormalities at high-risk for UPD. A list of clinical instances requiring search for UPD is provided.

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