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Cited by 23Genomic variations and chromosomal abnormalitiesChromosomal and Genetic VariationsSperm and Testicular Function

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from 13 robertsonian translocations

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Wang, B, Nie, B, Tang, D, Li, R, Liu, X, Song, J, Wang, W, Liu, Z·2017·Balkan Journal of Medical Genetics
DOI 10.1515/bjmg-2017-0003PMC PMC5596821
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Abstract

The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 22, 18, X and Y in sperm. Among the heterozygous ROB translocation carriers, the frequency of normal/balanced spermatozoa resulting from alternate segregation varied between 70.4 and 85.2%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 14.8 and 29.6%. Increased frequencies of aneuploidy for a sex chromosome were found in 10 ROB translocation carriers (P2-P8, P10-P12). Increased frequencies of aneuploidy for chromosome 18 were found in10 ROB translocation carriers (P3-P9, P11-P13). In addition, increased frequencies of diploid were found in 11 ROB translocation carriers (P2-P9, P11-P13). Among the homozygous ROB translocation carriers, the rate of balanced spermatozoa was 99.7% and the frequency of unbalanced spermatozoa was 0.3%. However, the frequencies of aneuploidy for a sex chromosome and chromosome 18 were normal. Despite the high number of normal/balanced frequencies, there remained many unbalanced spermatozoa resulting from alternate segregation. The ROB translocation carriers may be at an increased risk for ICE. Robertsonian translocation homozygosity could be seen as a potential speciation in humans with 44 chromosomes.

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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 [34]

    The Results report increased aneuploidy in many Robertsonian translocation carriers and more unbalanced sperm in heterozygous carriers than in controls; the homozygous carrier did not show this increase. The Patients and Results sections do not establish increased risk for unselected infertile men, men with sperm DNA fragmentation or reciprocal translocations, or men with recurrent pregnancy loss as a separate group. Page numbers are unavailable in our copy. (LLM, conf=0.90)

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Cited by

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Authors
Wang, B., Nie, B., Tang, D., Li, R., Liu, X., Song, J., Wang, W., & Liu, Z.
Affiliations
  • Hubei Provincial Women and Children's Hospital (CN)
  • Wuhan University (CN)
  • The Central Hospital of Xiao gan (CN)
Corresponding author
Liu, Z
ORCID
Venue
Balkan Journal of Medical Genetics
Publisher
Walter de Gruyter GmbH
Published
2017-06-01
Volume
20
Issue
1
Pages
43-50
ISSN
1311-0160 (ISSN-L)
DOI
10.1515/bjmg-2017-0003
PMC
PMC5596821
OpenAlex
W2754416812
Cited by
23
References
0
Citations by year
2026: 1 · 2025: 2 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 5 · 2020: 5 · 2019: 2 · 2018: 3
FWCI
1.82
Type
journal article
Language
en
Open access
Licence
Locations
  • Balkan Journal of Medical Genetics (publishedVersion, cc-by-nc-nd)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
National Natural Science Foundation of China
Topics
  • 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
  • Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
Keywords
Robertsonian translocation, meiotic segregation, interchromosomal effect, sperm aneuploidy, sex chromosome aneuploidy, alternate segregation, male carriers, speciation, chromosomal rearrangements

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