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Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To find out the meiotic segregation behaviour of the t(1;8;2)(q42;p21;p15), to evaluate the occurrence of interchromosomal effects, and to determine whether there is an accumulation of unbalanced products in aneuploid/diploid gametes.

Methods

A sequential FISH protocol based on two successive hybridization rounds over the same spermatozoa was performed to determine the segregation outcome of the rearranged chromosomes. The presence of numerical abnormalities for 13, 18, 21, X and Y was also evaluated by sperm FISH. Those aneuploid/diploid gametes were subsequently relocalized and analyzed for their segregation content through additional hybridization rounds.

Results

The segregation pattern observed reported a very low production of normal/balanced gametes (11.7 %). Significant increased frequencies of diploidies and disomies for chromosomes X/Y and 18 were detected (p < 0.001). Aneuploid and diploid spermatozoa displayed significant increases of 5:1, 6:0 and other unexpected disjunction modes (p < 0.001).

Conclusions

The strategy developed in this study is a reliable new approach to establish the full segregation pattern of complex chromosome rearrangements (CCR). Results corroborate the low number of normal/balanced spermatozoa produced by CCR carriers and support previous findings regarding an altered segregation pattern in gametes with numerical abnormalities. Altogether this confirms the importance of PGD as a tool to prevent the transmission of chromosomal abnormalities to the offspring in CCR patients.

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Acknowledgments

This work was supported by the projects SAF2010-22241 (Ministerio de Ciencia e Innovación, España), SGR2009-282 (Generalitat de Catalunya) and UAB CF-180034 (Universitat Autònoma de Barcelona). A.G. is a recipient of a grant FI-DGR 2012 (Generalitat de Catalunya).

Conflict of interest

The authors declare that there are no conflicts of interest.

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Authors and Affiliations

  1. Unitat de Biologia Cel·lular (Facultat de Biociències), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain

    Anna Godo, Joan Blanco, Francesca Vidal & Ester Anton

  2. Reproductive Medicine Service, Department of Obstetrics, Gynecology and Reproduction, Institut Universitari Dexeus, Barcelona, Spain

    Mònica Parriego & Montserrat Boada

Authors
  1. Anna Godo
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  2. Joan Blanco
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  3. Francesca Vidal
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  4. Mònica Parriego
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  5. Montserrat Boada
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  6. Ester Anton
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Corresponding author

Correspondence to Ester Anton.

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Capsule

The study reveals a low production of normal/balanced gametes in a t(1;8;2)(q42;p21;p15) carrier and supports previous findings related to the presence of an altered segregation pattern in gametes with numerical abnormalities.

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Godo, A., Blanco, J., Vidal, F. et al. Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier. J Assist Reprod Genet 30, 1115–1123 (2013). https://doi.org/10.1007/s10815-013-0063-5

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  • DOI: https://doi.org/10.1007/s10815-013-0063-5

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