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Hum. Reprod. Advance Access published online on May 5, 2005
Human Reproduction, doi:10.1093/humrep/dei050
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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@oupjournals.org
Received January 14, 2005
Revised March 16, 2005
Accepted April 1, 2005

Article

Ultrastructural studies of spermatozoa from infertile males with Robertsonian translocations and 18, X, Y aneuploidies

B. Baccetti 1*, G. Collodel 1, R. Marzella 2, E. Moretti 1, P. Piomboni 1, G. Scapigliati 1, and F. Serafini 1

1 Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Biology, Siena University, Regional Referral Center for Male Infertility, Azienda Ospedaliera Universitaria Senese, Siena, Italy and
2 Department of Pathological Anatomy and Genetics D.A.P.E.G., University of Bari, via Amendola 165/A, 70126, Bari, Italy

* To whom correspondence should be addressed.
B. Baccetti, E-mail: baccetti{at}unisi.it


  Abstract

BACKGROUND: In order to clarify the relationship between chromosomal rearrangements, sperm morphology and interchromosomal effects (ICE), we studied the spermatogenetic defects in seven infertile Robertsonian translocation carriers. METHODS: Lymphocyte karyotypes were evaluated using Giemsa-Trypsin-Giemsa banding and fluorescence in-situ hybridization (FISH). Semen analysis was performed by light and transmission electron microscopy. FISH of sperm nuclei was carried out to detect possible ICE. RESULTS: Lymphocyte karyotype analysis revealed five t(13;14), one t(13;21) and one t(14;22) carriers. Sperm ultrastructural examination highlighted a higher percentage of immaturity, apoptosis and necrosis than in controls. Aneuploidies of gonosomes were detected in sperm from five out of six carriers of Robertsonian translocation, whereas aneuploidy of chromosome 18 was evident in three out of six carriers. The frequencies of diploidy were altered in all cases. CONCLUSIONS: Since these infertile patients showed severe spermatogenetic impairment from the morphological and meiotic points of view, we recommend detailed sperm ultrastructural and chromosomal analysis before undertaking ICSI cycles in Robertsonian translocation carriers.

Keywords: FISH; ICE; Robertsonian translocation; sperm; TEM.
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