Skip Navigation



Hum. Reprod. Advance Access published online on August 6, 2004
Human Reproduction, doi:10.1093/humrep/deh439
© 2004 by European Society of Human Reproduction and Embryology
This Article
Right arrow FREE Full Text (PDF ) Freely available
Right arrow All Versions of this Article:
19/10/2227    most recent
deh439v1
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Morel, F.
Right arrow Articles by De Braekeleer, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Morel, F.
Right arrow Articles by De Braekeleer, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Received January 16, 2004
Revised May 17, 2004
Accepted July 6, 2004

Case report

Lack of intraindividual variation of unbalanced spermatozoa frequencies from a 46,XY,t(9;22)(q21;q11.2) carrier: Case report

F. Morel 1, N. Douet-Guilbert 1, M.-J. Le Bris 2, A. Herry 1, C. Marchetti 3, V. Lefebvre 3, B. Delobel 4, V. Amice 2, J. Amice 1, M. De Braekeleer 1*

1 Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France, Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France
2 Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France
3 Service de Biologie de la Reproduction, CHRU Lille, France
4 Centre de Génétique Chromosomique, Hôpital Saint Antoine, Lille, France

* To whom correspondence should be addressed. E-mail: marc.debraekeleer{at}univ-brest.fr.


  Abstract

The meiotic segregation pattern of 83 men carrying a balanced reciprocal translocation between two autosomes has already been published. Nevertheless, the question of intraindividual variations has not been addressed yet. A 32-year-old patient was found to be a carrier of a t(9;22)(q21;q11.2) during the investigations for a couple with infertility for 3 years. Two sperm samples were obtained at more than 3 months interval. Both sperm samples were analyzed in triple FISH with the D9Z1 and LSI BCR/ABL ES translocation probes. The frequency of gametes exhibiting a chromosomal imbalance was 45.32% and 42.1% in samples 1 and 2, respectively, with the unbalanced spermatozoa resulting from adjacent 1, adjacent 2, and 3:1 segregation in decreasing frequencies. No statistically significant difference was found between both segregation profiles. Four studies have analyzed the meiotic segregation pattern of translocations within families; they found similar profiles of meiotic segregation in each family, but not between families. This suggests, along with our results, that meiotic segregation is not a random process. More studies on intraindividual variations are necessary to allow a better understanding of the meiotic behaviour of chromosomal rearrangements and the practical interest of studies of this kind.

Keywords: FISH; male infertility; meiotic segregation; reciprocal translocation; spermatozoa.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum ReprodHome page
M. Vozdova, E. Oracova, V. Horinova, and J. Rubes
Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18)
Hum. Reprod., March 1, 2008; 23(3): 581 - 588.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
A. Perrin, N. Douet-Guilbert, B. Laudier, M.L. Couet, F. Guerif, D. Royere, M.J. Le Bris, M. De Braekeleer, and F. Morel
Meiotic segregation in spermatozoa of a 45,XY,-14,der(18)t(14;18)(q11;p11.3) translocation carrier: A Case Report
Hum. Reprod., March 1, 2007; 22(3): 729 - 732.
[Abstract] [Full Text] [PDF]

Home page
 J AndrolHome page
E. Wiland, A. T. Midro, B. Panasiuk, and M. Kurpisz
The Analysis of Meiotic Segregation Patterns and Aneuploidy in the Spermatozoa of Father and Son With Translocation t(4;5)(p15.1;p12) and the Prediction of the Individual Probability Rate for Unbalanced Progeny at Birth
J Androl, March 1, 2007; 28(2): 262 - 272.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.