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Hum. Reprod. Advance Access originally published online on April 3, 2006
Human Reproduction 2006 21(8):2052-2056; doi:10.1093/humrep/del090
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© The Author 2006. 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 The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permissions@oxfordjournals.org

Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report

V. Malan1, E. Pipiras1, C. Sifer1, S. Kanafani1, I. Cedrin-Durnerin2, B. Martin-Pont1, J.N. Hugues2, J.P. Wolf1 and B. Benzacken1,3

1 Service d’Histologie-Embryologie et Cytogénétique, Biologie de la Reproduction, Hôpital Jean Verdier(AP-HP), UFR-SMBH, Bondy, France and 2 Service d’Aide Médicale à la Procréation, Hôpital Jean Verdier, Laboratoire de Cytogénétique (AP-HP), Bondy, France

3 To whom correspondence should be addressed at: Hôpital Jean Verdier, Laboratoire de Cytogénétique (AP-HP), Avenue du 14 juillet, 93143 Bondy Cedex, France. E-mail: brigitte.benzacken{at}jvr.ap-hop-paris.fr

We report the case of a 40-year-old patient referred to our centre after 3 years of infertility. Karyotyping with the aid of fluorescence in situ hybridization (FISH) analysis showed a unique pericentric inversion of chromosome 21:46,XY,inv(21)(p12q22.3). This type of intrachromosomal structural rearrangement can lead to chromosome imbalance in offspring by producing unbalanced gametes if an odd number of crossover events occur within the inverted segment. Therefore, partial trisomy/monosomy with clinical consequences can be observed in the progeny of carriers. Semen samples from the inversion carrier were analysed by FISH using a combination of probes [a subtelomeric 21q probe and a locus-specific Down’s syndrome critical region (DSCR) probe] to evaluate the proportion of recombinant chromosomes. Sperm-FISH analysis of 3400 spermatozoa revealed a 67.4% rate of balanced chromosomes (normal or inverted). The frequencies of recombinant chromosomes with duplication of the long arm and deletion of the short arm, and vice versa, were 11.2 and 21.4%, respectively. The risk for the couple of conceiving a child with an unbalanced chromosome 21 is estimated to be around 32%. This case study shows the utility of sperm-FISH analysis in the genetic counselling of a pericentric inversion in a male carrier to assess the frequency of recombinant chromosomes and therefore evaluate the probability of having a normal conception.

Key words: chromosome 21/human sperm-FISH/pericentric inversion/primary infertility/recombinant chromosome


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