Human Reproduction, Vol. 17, No. 5, 1292-1298,
May 2002
© 2002 European Society of Human Reproduction and Embryology
Polyploidy in large-headed sperm: FISH study of three cases
1 Laboratoire de Cytogénétique, Biologie de la Reproduction et CECOS, Centre Hospitalo-Universitaire de Grenoble, 38043 Grenoble cedex 09, 2 Laboratoire de Biologie de la Reproduction et du Développement, Faculté de Médecine Timone, 27 Bd Jean Moulin, 13 385 Marseille cedex 05, 3 Unite INSERM U309, UJF Grenoble, Institut Albert Bonniot, Domaine de la Merci, 38706 Grenoble, France
BACKGROUND: Macrocephalic or large headed sperm with multiflagella is a rare abnormality often associated with infertility. Sperm chromosomal abnormalities could be associated with this specific morphological abnormality. METHODS: The cytogenetic content of large-headed sperm was assessed by dual and three-colour fluorescence in-situ hybridization in three patients carrying this specific morphological abnormality. RESULTS: In all patients nearly all sperm contained at least one copy of each sex chromosome, and in more than half of them at least two copies of either chromosome 1 or 18 were identified. In some sperm a tetraploidy was found. CONCLUSIONS: These observations suggested that both meiotic I and II divisions were affected by incomplete partition of homologous chromosomes during meiosis I and of sister chromatids during meiosis II associated with a failure of nuclear cleavage. Furthermore, they provide evidence for a clear relationship between a specific morphological abnormality of the sperm and their abnormal cytogenetic content. The treatment of infertility using ICSI would probably be unsuccessful and have a high genetic risk in these cases.
Key words: aneuploidy/FISH/ICSI/morphological abnormalities/sperm chromosomes
4 To whom correspondence should be addressed. E-mail: sophie.rousseaux{at}ujf-grenoble.fr
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