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Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis

  1. P. N. Scriven1,*,
  2. A. H. Handyside2,
  3. C. Mackie Ogilvie1

Article first published online: 15 JAN 1999

DOI: 10.1002/(SICI)1097-0223(199812)18:13<1437::AID-PD497>3.0.CO;2-P

Issue

Prenatal Diagnosis

Prenatal Diagnosis

Special Issue: Preimplantation Genetics and Diagnosis

Volume 18, Issue 13, pages 1437–1449, December 1998

Additional Information

How to Cite

Scriven, P. N., Handyside, A. H. and Ogilvie, C. M. (1998), Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenatal Diagnosis, 18: 1437–1449. doi: 10.1002/(SICI)1097-0223(199812)18:13<1437::AID-PD497>3.0.CO;2-P

Author Information

  1. 1

    Division of Medical and Molecular Genetics, 8th Floor Guy's Tower, Guy's Hospital, London, SE1 9RT, U.K.

  2. 2

    Department of Obstetrics and Gynaecology, 6th Floor North Wing, St Thomas' Hospital, Lambeth Palace Road, London, SE1 7EH, U.K.

*Division of Medical and Molecular Genetics, 8th Floor Guy's Tower, Guy's Hospital, London, SE1 9RT, U.K.

Publication History

  1. Issue published online: 15 JAN 1999
  2. Article first published online: 15 JAN 1999

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Keywords:

  • preimplantation genetic diagnosis (PGD);
  • reciprocal translocations;
  • sub-telomeric probes;
  • fluorescence in situ hybridization (FISH);
  • meiotic segregation

Abstract

Preimplantation genetic diagnosis (PGD) offers polymerase chain reaction tests for an increasing range of single gene defects, and fluorescence in situ hybridization tests for sex determination (for X-linked conditions) and for aneuploidy detection. Patients carrying chromosome translocations with a high reproductive risk are increasingly seeking to increase their chances of a normal pregnancy with the help of PGD, for which they present a special challenge. This paper describes the behaviour of reciprocal translocations at meiosis, discusses current methods of detecting meiotic outcomes at the preimplantation stage and outlines ways forward for preimplantation diagnosis of these common rearrangements. We also propose a more general strategy using recently developed chromosome-specific sub-telomeric probes, combined, if possible, with proximal probes, to form a strong diagnostic tool. Copyright © 1998 John Wiley & Sons, Ltd.

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