Skip Navigation


Hum. Reprod. Advance Access originally published online on November 6, 2007
Human Reproduction 2008 23(1):227-230; doi:10.1093/humrep/dem359
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF ) Freely available
Right arrow All Versions of this Article:
23/1/227    most recent
dem359v1
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 ISI Web of Science
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 arrow Search for citing articles in:
ISI Web of Science (3)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Perrin, A.
Right arrow Articles by Morel, F.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Perrin, A.
Right arrow Articles by Morel, F.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2007. 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

Segregation of chromosomes in sperm of a t(X;18)(q11;p11.1) carrier inherited from his mother: Case Report

A. Perrin1, N. Douet-Guilbert1,2, M.J. Le Bris2, G. Keromnes3, M.L. Langlois4, P. Barrière4, J. Amice1,2, V. Amice2, M. De Braekeleer1,2,5 and F. Morel1,2

1 Laboratoire d’Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, 22, Avenue Camille Desmoulins, CS 93837, F-29238 Brest Cedex 3, France 2 Service de Cytogénétique,Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France 3 Laboratoire de Kerlann, Vannes, France 4 Service de Biologie et Médecine du Développement et de la Reproduction, CHU Nantes, Nantes, France

5 Correspondence address. Tel: +33-2-98-01-64-76; Fax: +33-2-98-01-81-89; E-mail: marc.debraekeleer{at}univ-brest.fr

Balanced reciprocal translocations are the most common structural abnormalities; most involve two autosomes while a few involve a gonosome (X or Y chromosome) and an autosome. These rearrangements are usually associated with infertility and/or a higher risk of chromosomal imbalances among offspring. This 26 years old man was first seen because of a 3-year history of primary infertility. He had been found to have a translocation, t(X;18)(q11;p11.1), inherited from his mother when he was 9 years old. Semen analysis showed a very severe oligoasthenoteratozoospermia (OAT). A total of 447 spermatozoa were analysed using three-colour fluorescent in situ hybridization (FISH). The alternate segregation pattern, leading to a normal or balanced chromosomal content, was found in 54.36% of the spermatozoa studied. The frequencies of Adjacent I, Adjacent II, 3:1 segregation and diploidy (or 4:0 segregation) were 8.28, 5.14, 22.37 and 2.01%, respectively. Balanced reciprocal translocations between an autosome and the X chromosome lead to important disruptions in human spermatogenesis. Almost all the males with an X-autosome translocation have azoospermia. The man reported here had very severe OAT and is the first in whom the meiotic segregation pattern was analysed. This case further emphasizes the interest in performing FISH studies in infertile males with a chromosomal translocation to provide them with a personalized imbalance risk.

Key words: meiotic segregation/FISH/X-autosome translocation

Submitted on April 21, 2007; resubmitted on July 30, 2007; accepted on September 5, 2007.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




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.