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Human Reproduction, Vol. 17, No. 10, 2552-2555, October 2002
© 2002 European Society of Human Reproduction and Embryology

Sex chromosome mosaicism in couples undergoing intracytoplasmic sperm injection

F. Morel1,2, F. Gallon2, V. Amice2, M.-J. Le Bris2, M.T. Le Martelot3, S. Roche3, A. Valéri4, V. Derrien5, A. Herry1,2, J. Amice1,2 and M. De Braekeleer1,2,6

1 Faculté de Médecine, Université de Bretagne Occidentale, Brest, 2 Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, 3 Service de Gynécologie-Obstétrique et Médecine de la Reproduction, CHU Morvan, Brest, 4 Service d’Urologie, CHU La Cavale Blanche, Brest and 5 Service de Gynécologie, CHG, Lorient, France

BACKGROUND: Several studies have shown an increased frequency of constitutional chromosome aberrations in male and female partners of couples examined prior to ICSI. We conducted a cohort study to determine whether there was an increase in numerical sex chromosome mosaicism among couples undergoing ICSI compared with fertile couples. METHODS: Cytogenetic investigations were performed in 228 females and 208 males seen for ICSI between January 1997 and March 2001. They were matched to control females and males. RESULTS: Sex chromosome loss or gain was observed in at least one cell from 24.1% of ICSI women in comparison with 22% of controls (not significant). A significant difference between these two groups was found when X chromosome loss in at least two cells was considered, 9.6% for ICSI females versus 4.8% for controls (P = 0.01). No significant difference was observed between male groups concerning loss or gain of the X or Y chromosome. CONCLUSION: Our results support previously published studies indicating that the loss of an X chromosome in a single cell in females undergoing ICSI is probably an artefact. However, they suggest that a woman could have true sex chromosome mosaicism when two 45,X0 cells are found.

Key words: chromosomal abnormality/cytogenetics/ICSI/sex chromosome mosaicism

6 To whom correspondence should be addressed at: Laboratoire de Cytogénétique, Faculté de Médecine, Université de Bretagne Occidentale, 22, avenue Camille Desmoulins, F-29285 Brest cedex, France. E-mail: marc.debraekeleer{at}univ-brest.fr


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