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Mol. Hum. Reprod. Advance Access originally published online on October 31, 2006
Molecular Human Reproduction 2007 13(1):55-59; doi:10.1093/molehr/gal094
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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

Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility

S. Chantot-Bastaraud1, C. Ravel1, I. Berthaut1, K. McElreavey2, P. Bouchard3, J. Mandelbaum1 and J.P. Siffroi1,4

1AP-HP, Hôpital Tenon, Service d’Histologie, Biologie de la Reproduction et Cytogénétique, Université Pierre et Marie Curie-Paris6, EA 1533, 2Unité de Reproduction, Fertilité et Développement, Département de Biologie du Développement, Institut Pasteur and 3AP-HP, Hôpital Saint-Antoine, Service d’Endocrinologie, Université Pierre et Marie Curie-Paris6, EA 1533, Paris, France

4 To whom correspondence should be addressed at: Hôpital Tenon, Service d’Histologie, Biologie de la Reproduction et Cytogénétique, 4 rue de la Chine, 75020 Paris, France. E-mail: jean-pierre.siffroi{at}tnn.aphp.fr


  Abstract

No phenotypic effect is observed in most inversion heterozygotes. However, reproductive risks may occur in the form of infertility, spontaneous abortions or chromosomally unbalanced children as a consequence of meiotic recombination between inverted and non-inverted chromosomes. An odd number of crossovers within the inverted segment results in gametes bearing recombinant chromosomes with a duplication of the region outside of the inversion segment of one arm and a deletion of the terminal segment of the other arm [dup(p)/del(q) and del(p)/dup(q)]. Using fluorescence in-situ hybridization (FISH), the chromosome segregation of a pericentric inversion of chromosome 1 was studied in spermatozoa of a inv(1)(p22q42) heterozygous carrier. Three-colour FISH was performed on sperm samples using a probe mixture consisting of chromosome 1p telomere-specific probe, chromosome 1q telomere-specific probe and chromosome 18 centromere-specific alpha satellite DNA probe. The frequency of the non-recombinant product was 80.1%. The frequencies of the two types of recombinants carrying a duplication of the short arm and a deletion of the long arm, and vice versa, were respectively 7.6 and 7.2%, and these frequencies were not statistically significant from the expected ratio of 1:1. Sperm-FISH allows the further understanding of segregation patterns and their effect on reproductive failure and allows an accurate genetic counselling.

Key words: chromosome 1/meiotic segregation/pericentric inversion/primary infertility/sperm-FISH


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