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Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15)

  • Genetics
  • Published:
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Abstract

Purpose

To determine the percentage of unbalanced spermatozoa and an interchromosomal effect in two carriers of balanced translocations t(13;15)(q32;q26) and t(13;15)(q32;p11.2).

Methods

Sperm nuclei analysis by fluorescent in situ hybridization for detection of percentage of unbalanced spermatozoa and sperm with disomy of chromosomes X, Y, 8, 18, 21 and diploidy.

Results

The incidence of unbalanced spermatozoa was 50.5 % and 44.6 % in patient 1 (P1) and patient 2 (P2), respectively. Partial disomy of chromosome 13 was detected in 13.4 % and 21.3 % of sperm in P1 and P2, respectively. The unbalanced karyotype der(15)t(13;15) was found previously in a son of P1 and in two adult relatives, and prenatally in the family of P2. This demonstrates a high risk of delivering an affected offspring. Significantly increased frequencies of chromosomes 8, 18, X and XY disomy and diploidy were observed in P2, which might either indicate an interchromosomal effect or be related to his asthenoteratozoospermia.

Conclusions

Since the proportions of unbalanced spermatozoa and the risk of delivering an affected offspring are high, prenatal or preimplantation genetic diagnosis is recommended for such patients.

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Acknowledgments

Supported by the Grant Agency of the Czech Ministry of Health, grant No. NS 9842-4/2008 and CEITEC - Central European Institute of Technology (CZ.1.05/1.1.00/02.0068) from European Regional Development Fund.

The authors are grateful to the patients and their families for their participation in the study. We wish to thank Mr. Paul Veater (Bristol, United Kingdom) for proofreading the translated manuscript.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Medical Genetics, University Hospital Brno, 625 00, Brno, Czech Republic

    Katerina Kasikova, Renata Gaillyova & Marta Hanakova

  2. Department of Genetics and Reproduction, Veterinary Research Institute, 621 00, Brno, Czech Republic

    Miluse Vozdova, Petra Prinosilova & Jiri Rubes

  3. Department of Preventive Medicine, Faculty of Medicine, Masaryk University, 602 00, Brno, Czech Republic

    Katerina Kasikova

  4. Biological Institute, Faculty of Medicine, Masaryk University, 602 00, Brno, Czech Republic

    Renata Gaillyova

Authors
  1. Katerina Kasikova
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  2. Miluse Vozdova
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  3. Petra Prinosilova
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  4. Renata Gaillyova
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  5. Marta Hanakova
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  6. Jiri Rubes
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Corresponding author

Correspondence to Miluse Vozdova.

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Capsule

Sperm FISH in two carriers of non-Robertsonian t(13;15) showed 44.6 % and 50.5 % of unbalanced spermatozoa and increased frequencies of disomy and diploidy in asthenoteratospermic patient P1.

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Kasikova, K., Vozdova, M., Prinosilova, P. et al. Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15). J Assist Reprod Genet 29, 693–698 (2012). https://doi.org/10.1007/s10815-012-9767-1

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  • DOI: https://doi.org/10.1007/s10815-012-9767-1

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