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Hum. Reprod. Advance Access published online on December 16, 2005
Human Reproduction, doi:10.1093/humrep/dei427
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received September 13, 2005
Revised November 7, 2005
Accepted November 15, 2005

Article

Meiotic segregation patterns and ICSI pregnancy outcome of a rare (13;21) Robertsonian translocation carrier: a case report

C. Hatakeyama 1, H. Gao 1, K. Harmer 1, and S. Ma 1 *

1 Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, British Columbia, Canada

* To whom correspondence should be addressed.
S. Ma, E-mail: sai{at}interchange.ubc.ca


  Abstract

t(13;21) is an uncommon Robertsonian translocation (RT) with limited information in the literature. Hereby, we assessed the meiotic segregation and interchromosomal effect (ICE) in sperm nuclei from a t(13;21) carrier. The pregnancy outcome following ICSI was also included as reference for physicians and patients. Dual-colour fluorescent in situ hybridization (FISH) was carried out to analyse the segregation pattern of chromosomes 13 and 21, while triple-colour FISH was used to investigate the possible concurrence of ICE. With respect to chromosomal constitutions of 13 and 21, 88.39% of the spermatozoa were normal or balanced due to alternative segregations, and 11.08% showed nullisomy or disomy as a result of adjacent segregations. However, for chromosome 18 and sex chromosomes, the proportion of normal haploids was 98.79%. The rate of disomy was not significantly higher than the controls for either chromosome 18 or X/Y. The rare t(13;21) case exhibited a similar pattern of meiotic segregation as in the common RTs. ICEs were not observed in the current case.

Keywords: ICSI/interchromosomal effects/meiotic segregation/Robertsonian translocations/spermatozoa.
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