The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type

Ferfouri, F.; Selva, J.; Boitrelle, Florence; Gomes, D. Molina; Torre, Antoine; Albert, Martine; Bailly, M.; Clément, Patrice; Vialard, François

doi:10.1016/j.fertnstert.2011.09.008

Cited by 26 publications

(30 citation statements)

References 44 publications

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“…Significantly lower concentrations of sperm in semen of RT translocation carriers in comparison to ejaculated samples of fertile donors were also observed by other authors [18]. The lower number of sperm in semen of RT carriers can be the result of spermatogenesis impairment caused by the process of segregation and improper gene expression during gamete formation [19,20]. Activation of the process of apoptosis which allowed, at least partially, for exclusion of cells with chromosomal rearrangements [21] during spermiogenesis [18], can also explain this phenomenon.…”

Section: Discussionsupporting

confidence: 67%

“…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: 61%

“…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%

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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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Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 61%

Section: Sperm Motility (%)mentioning

confidence: 88%

See 1 more Smart Citation

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Pastuszek¹,

Kiewisz²,

Kulwikowska³

et al. 2016

Folia Histochem Cytobiol.

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“…Furthermore, the mean number of spermatozoa analyzed in our series was 126±36 for the ICSI selected sample and 82±41 for MSOME; both numbers were much higher than that previously reported (9±7) [10]. Even though the effect on spermatogenesis varies from one type of translocation to another [29], there are also significant inter-individual variations for a given translocation [2,14,22]. In infertile populations with implantation failure, the use of IMSI reportedly increases the pregnancy rate.…”

Section: Discussioncontrasting

confidence: 55%

High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations

Chelli

Ferfouri

Boitrelle

et al. 2013

J Assist Reprod Genet

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Problem This study sought to evaluate the value of motile sperm organelle morphology examination (MSOME) for selecting euploid spermatozoa in six patients who were heterozygous for a reciprocal translocation. Method of study We used sperm fluorescence in situ hybridization (FISH) to screen for aneuploidy of the chromosomes involved in the translocations and a putative interchromosomal effect (ICE) for chromosomes 18, X and Y. This procedure was performed on (i) whole sperm (i.e. no selection) and on normal spermatozoa selected (ii) at a magnification typically used for intracytoplasmic sperm injection (ICSI), referred to as "ICSIlike", and (iii) with MSOME. Results The balanced translocation rates did not differ significantly (p=0.81) when comparing whole sperm (57.2 %) with spermatozoa after ICSI-like selection (56.3 %) or after MSOME (53.7 %). Similarly, the aneuploidy rates for ICEs did not differ significantly (p=0.14) when comparing whole sperm (1.9 %), ICSI-selected spermatozoa (3.4 %) and MSOME-selected spermatozoa (1.0 %). Conclusion For patients who are heterozygous for reciprocal translocations, MSOME does not improve the selection of euploid spermatozoa.

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“…It should be mentioned, however, that the range of frequencies of normal/ balanced gametes in our group (from 68-94.4 %) is wider, than /ml did not differ significantly (20.9 % vs 20.4 %; p =0.9). Such an association, however, was observed by Ferfouri and colleagues [9] in a group of 29 Robertsonian translocation carriers. Authors of several studies attempted to identify other factors, which may correlate with chromosomal complement.…”

Section: Resultsmentioning

confidence: 79%

Chromosomal segregation in sperm of Robertsonian translocation carriers

Pylyp

Zukin

Bilko

2013

J Assist Reprod Genet

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Purpose To study meiotic segregation patterns of Robertsonian translocations in sperm of male carriers and to assess the frequencies of unbalanced sperm formation. Methods FISH with combination of probes to detect all the variants of meiotic segregation was performed on decondensed sperm nuclei of 5 carriers of der(13;14), 3 carriers of der(14;21) and one carrier of a rare der(13;21) translocation. Results The frequency of sperm with alternate segregation and normal/balanced chromosomal complement ranged from 68 % to 94.4 % (mean 79.2±8.4). Adjacent segregation was detected in 17.9±7.3 % of sperm (from 5.6 % to 29 %). No significant differences in frequencies of gametes with nullisomies and disomies of chromosomes involved in translocations were observed. The mean frequency of 3:0 segregation products was 2.5±1.4 %. Conclusions All analyzed patients showed homogenous segregation pattern with clear predominance of alternate segregation resulting in normal/balanced sperm production. Still, from 5.8-32 % (mean 20.4±8.3 %) of sperm was unbalanced, which is the evidence of the increased risk of unbalanced offspring in carriers of Robertsonian translocations. Our results highlight the importance of genetic counseling of Robertsonian translocation carriers prior to ICSI or IVF.

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The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type

Cited by 26 publications

References 44 publications

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations

Chromosomal segregation in sperm of Robertsonian translocation carriers

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