Altered segregation pattern and numerical chromosome abnormalities interrelate in spermatozoa from Robertsonian translocation carriers
Open accessAbstract
The aim of this study was to assess whether there is a relationship between numerical chromosome abnormalities and certain segregation modes in spermatozoa from Robertsonian translocation carriers. A sequential fluorescence in-situ hybridization protocol based on two successive hybridization rounds was performed on sperm samples from one t(13;22) and ten t(13;14) carriers. Patient inclusion criteria included the presence of a positive interchromosomal effect (ICE). In the first round, numerical abnormalities for chromosomes 15/22, 18, 21, X and Y were analysed. In the second round, the segregation outcome of the rearranged chromosomes was evaluated in the numerically abnormal spermatozoa detected in the first round, as well as in randomly assessed spermatozoa. Aneuploid spermatozoa showed statistical differences in all segregation modes when compared with randomly assessed spermatozoa: alternate (50.7% versus 84.3%), adjacent (36.6% versus 14.6%) and 3:0 (10.2% versus 1%). Diploid/multiple disomic spermatozoa showed differences in alternate (3.7% versus 84.3%) and 3:0 (67.6% versus 1%). We concluded that in Robertsonian translocation carriers that exhibit ICE, numerically abnormal spermatozoa preferentially contain unbalanced segregation products. This might be explained by heterosynapsis acting as a rescue mechanism that would lead to aberrant recombination, which is a predisposing factor for non-disjunction events.
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Unselected infertile men, as well as men with SDF, Robertsonian and reciprocal translocation, and those with a history of recurrent pregnancy loss are at increased risk of producing aneuploid sperm.
“Unselected infertile men, as well as men with SDF, Robertsonian and reciprocal translocation, and those with a history of recurrent pregnancy loss are at increased risk of producing aneuploid sperm [33,34].”
From The Sixth Edition of the WHO Manual for Human Semen Analysis: A Critical Review and SWOT Analysis (2021) · cites this paper as [33]
The Introduction reports that more than half of Robertsonian translocation carriers produce significantly increased percentages of sperm with numerical chromosome abnormalities. The Biological samples section says this study included only carriers already known to have elevated aneuploid or diploid sperm rates, and the Conclusions limit its findings to that group. The paper does not establish the same increased risk for unselected infertile men, men with sperm DNA fragmentation, or men with recurrent pregnancy loss; its comparison with reciprocal translocation carriers does not establish that risk for them either. No page numbers were available in our copy. (LLM, conf=0.88)
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- Gardner, R.J.M., Sutherland, G.R., Shaffer, L.G., 2011. Chromo- some Abnormalities and Genetic Counselling, fourth ed. Oxford Univeristy Press, New York.
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The Sixth Edition of the WHO Manual for Human Semen Analysis: A Critical Review and SWOT Analysis
Boitrelle, F., Shah, R., Saleh, R., Henkel, R., Kandil, H., Chung, E., Vogiatzi, P., Zini, A., Arafa, M., & Agarwal, A. (2021) · Life · doi:10.3390/life11121368 · Cited by 271 · see citing works
“Unselected infertile men, as well as men with SDF, Robertsonian and reciprocal translocation, and those with a history of recurrent pregnancy loss are at increased risk of producing aneuploid sperm [33,34].”
Background
- Authors
- Godo, A., Blanco, J., Vidal, F., Sandalinas, M., Garcia-Guixé, E., & Anton, E.
- Affiliations
- Universitat Autònoma de Barcelona (ES)
- Venue
- Reproductive BioMedicine Online
- Publisher
- Elsevier BV
- Published
- 2015-07
- Volume
- 31
- Issue
- 1
- Pages
- 79-88
- ISSN
- 1472-6483 (ISSN-L)
- OpenAlex
- W2000310926
- Cited by
- 59
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 2 · 2022: 2 · 2021: 6 · 2020: 4 · 2019: 3 · 2018: 36 · 2016: 3
- FWCI
- 14.83
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Reproductive BioMedicine Online (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministerio de Ciencia e Innovación (SAF2010-22241)
- Universitat Autònoma de Barcelona (UAB CF-180034)
- Generalitat de Catalunya (SGR2014-524)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- Robertsonian translocation, numerical chromosomal abnormalities, interchromosomal effect, nondisjunction, disomy
- MeSH terms
- Aneuploidy, Chromosome Aberrations, Chromosomes, Human, Heterozygote, Humans, Infertility, Male, Male, Spermatozoa, Translocation, Genetic, Chromosome Segregation
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