Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy

Vozdová, Miluše; Oráčová, Eva; Kašíková, Kateřina; Prinosilova, P.; Rybar, R.; Hořínová, Věra; Gaillyová, Renata; Rubeš, Jiřı́

doi:10.1007/s10815-012-9921-9

Cited by 56 publications

(67 citation statements)

References 55 publications

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“…This suggests that the breakpoint at 7p15 may not in fact affect spermatogenesis. Consistent with our findings, Vozdova et al (2013) reported a correlation between a 7q36 breakpoint and impaired spermatogenesis. And the associations between those at 7q21.2, 7q22, and 7q32 and recurrent abortion are also reported (Niroumanesh et al, 2011;Kochhar andGhosh, 2013, Zhang et al, 2015c).…”

Section: Discussionsupporting

confidence: 92%

“…Carriers of reciprocal translocations, while phenotypically normal, may experience reduced fertility and spontaneous abortions (Harton and Tempest, 2012). Previous studies have reported the involvement of balanced reciprocal translocations on chromosome 7 in male infertility and recurrent miscarriage (Tharapel et al, 1985;Vozdova et al, 2013;Zhang et al, 2015c). In the current investigation, reciprocal translocation was identified in 82 (1.57%) infertile men, 14 of whom (17.07%) carried chromosome 7 translocations.…”

Section: Discussionmentioning

confidence: 99%

“…These effects are dependent on the specific chromosomes involved in the translocation, the locations of the breaks, and the frequency of chiasmata (Vozdova et al, 2008;Harton and Tempest, 2012;Godo et al, 2013). Previous reports have indicated the involvement of balanced reciprocal translocations of chromosome 7 in male infertility and recurrent miscarriage (Tharapel et al, 1985;Vozdova et al, 2013;Zhang et al, 2015c).…”

Section: Introductionmentioning

confidence: 99%

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Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling

et al. 2016

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ABSTRACT. Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in male infertility and recurrent miscarriage. A translocation breakpoint can occur within an important gene, interrupting its structure and leading to male infertility. However, clinical characteristics resulting from chromosome 7 translocation breakpoints have not been studied. Here, we report such breakpoints and their associated clinical features, to enable informed genetic counseling of carriers. Balanced reciprocal translocations were found in 1.57% of the tested patients. Among these 82 individuals, 14 (17.07%) carried a chromosome 7 translocation, of which, five presented with pregestational infertility and clinical manifestations of oligozoospermia or necrospermia, while nine presented with gestational infertility (i.e., were able to conceive, but often resulting in miscarriage). Breakpoints at 7q31 and 7q36 were associated with pregestational infertility, whereas those at 7p10, 7q21.2, 7q22, and 7q32 were connected to gestational infertility. However, the breakpoint at 7p15 was associated with both. Chromosome 7 translocation carriers with pregestational or gestational infertility should be counseled on chromosomal breakpoints and the various molecular technologies available for assisted reproduction.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling

et al. 2016

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“…However, those parameters are lower than the rates mentioned in studies by Vozdova et al (30.8% of RT and 59.5% of RCT translocation carriers) [22] and the data presented by other authors [19]. This suggests that autosomal rearrangement of the karyotype does not always lead to severe oligozoospermia or azoospermia as do sex chromosome aberrations [5].…”

Section: Discussionmentioning

confidence: 62%

“…Other authors presented results showing no differences in terms of this sperm parameter between men with normal and abnormal karyotypes [29,30]. On the other hand, comparisons of RT carriers and control donors revealed decreased sperm motility in the group of patients carrying RT [18,19,22] for those with normal [19] and abnormal semen parameters [22]. Additionally, more recent data show only 4% progressive motility in 45,XY,t(14;14)(q10;q10) patients [31] and 8-17% progressive motility in 45,XY,t(14;22) patients [32].…”

Section: Sperm Motility (%)mentioning

confidence: 88%

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Pastuszek¹,

Kiewisz²,

Kulwikowska³

et al. 2016

Folia Histochem Cytobiol.

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Introduction. Somatic chromosomal rearrangements that occur in infertile males are thought to be one of the major genetic factors influencing male infertility. The objective of this retrospective study was to evaluate sperm parameters in a group of patients with balanced translocations. Material and methods. We analyzed semen of 84 balanced somatic translocation carriers [35 Robertsonian translocation (RT group) and 49 reciprocal translocation (RCT group)] and 57 men with normal karyotype (control group). Semen samples were evaluated for sperm concentration, its motion parameters and vitality, round cell number (CASA) and DNA fragmentation index (TUNEL). Cytogenetic evaluation was also performed for each study participant. Results. Sperm concentrations were lower when comparing the RT group to the control (p < 0.001) and RCT groups (p < 0.05). Occurrence of abnormal sperm concentration was more common among RT carriers (74.3%) than in the other groups (42.9% in RCT group and 28.1% in control group). The sperm progressive motility and vitality in RT carriers (21.53% and 62.17%) were lower than in control group (39.77% and 77.47%, p < 0.001, respectively) and RCT carriers (31.47% and 76.17%, p < 0.001, respectively). The RCT carriers and the control group did not differ in regard to sperm concentration, progressive sperm motility, motility grade D and sperm vitality. There were no significant differences in DNA fragmentation in carriers of both studied structural chromosomal rearrangements in comparison to subjects with normal karyotype. Conclusions. RT carriers had significantly lower semen parameters in comparison to not only the subjects with normal karyotypes but also the RCT carriers.

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Advances in Genetics of Male Infertility

Mostafa,

Fakhro,

Arafa

2024

Current and Future Advances in Male Infertility

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Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy

Abstract: Abnormal semen parameters can serve as indicators of an additional risk of forming spermatozoa with defective chromatin and aneuploidy in translocation carriers.

Cited by 56 publications

References 55 publications

Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling

Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Advances in Genetics of Male Infertility

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