Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier

Rives, Nathalie; Jarnot, Marion; Mousset-Siméon, N.; Joly, Géraldine; Macé, Bertrand

doi:10.1007/s10038-003-0072-9

Cited by 21 publications

(13 citation statements)

References 27 publications

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“…Nevertheless, in the literature, Escudero et al 29 and Brugnon et al 24 described frequencies of Adjacent II higher than Alternate or Adjacent I. Those same studies together with Martini et al, 30 Rives et al, 31 Van Assche et al, 32 Estop et al, 33 and Geneix et al, 34 also described high frequencies of 3:1 segregation products, a kind of segregation which in our population seemed to be the least frequent. Regarding that point, we think that it is important to note that segregation studies in reciprocal translocation carriers involve a greatly complicated methodological approach which, as has been discussed elsewhere, 35 can result in an overestimation of some specific types of unbalanced gametes.…”

Section: Tracing the Meiotic Behavior Of Reciprocal Translocationssupporting

confidence: 63%

“…Alternatively, the presence of abnormal seminal parameters was also considered because an association between low semen quality and increased tax of aneuploid sperm has been described. 31,[42][43][44] In this sense, a recent study (Sarrate et al, unpublished results) has revealed a 14% incidence of this phenomenon in individuals with altered seminal parameters and a normal karyotype. Nevertheless, in the population of reciprocal translocation carriers analyzed in this work, the frequency of cases with increased percentages of aneuploidies rose to 50%.…”

Section: Interchromosomal Effectmentioning

confidence: 93%

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Reciprocal translocations: tracing their meiotic behavior

Antón

Vidal

Blanco

2008

Genetics in Medicine

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Purpose: Segregation and interchromosomal effect studies have been performed in reciprocal translocation carriers by sperm-fluorescent in situ hybridization reporting a great heterogeneity. The divergences have been attributed to the particular cytogenetic characteristics of each rearrangement. Nevertheless, there is no consensus in the factors that are responsible for such variability. The purpose of this study was to determine which cytogenetic features influence in the segregation and interchromosomal effect outcome. Methods: Segregation and interchromosomal effects analyses were performed in 14 reciprocal translocation carriers, selected because they presented very different cytogenetic features regarding the tetravalent pairing geometry. In each segregation study, a customized combination of probes was used to identify all the segregation products. In the interchromosomal effect study, we used a triple-color fluorescent in situ hybridization for chromosomes X, Y, and 18. Results: A preferential segregation pattern with a gradually decreasing production of Alternate, Adjacent I, Adjacent II, and 3:1 segregation was observed in the segregation analysis. Some specific features have been observed to influence this distribution: size of the translocated and centric segments and the presence of centromeres from acrocentric chromosomes in the center of the cross. Aneuploidy/diploidy screening revealed increased frequencies of numerical anomalies in seven carriers. Conclusions: Our data suggest that reciprocal translocations display a more homogeneous behavior than described in the literature. The interchromosomal effects represent an additional source of imbalances in these carriers. Genet Med 2008:10(10):730 -738.

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Section: Tracing the Meiotic Behavior Of Reciprocal Translocationssupporting

confidence: 63%

Section: Interchromosomal Effectmentioning

confidence: 93%

Reciprocal translocations: tracing their meiotic behavior

Antón

Vidal

Blanco

2008

Genetics in Medicine

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“…In relation to the 3:1 segregation, in general there is an excess of monosomic spermatozoa compared to the complementary trisomic spermatozoa. Although an early selection during spermatogenesis of one of the two products has been noted (Mercier et al, 1998), technical problems cannot be discarded due to, for example, a reduction in the efficiency of hybridization in the smallest probes (Martini et al, 1998;Geneix et al, 2002;Rives et al, 2003).…”

Section: Comparison Of Results Obtained By Both Methodsmentioning

confidence: 99%

“…It has been proposed that the incidence of interchromosomal effects could be restricted to those translocation carriers with an altered semenogram (Pellestor et al, 2001). However, an altered semenogram is not always associated with interchromosomal effects (Rives et al, 2003), thus it is an open question as to which factors, if any, are responsible for the existence of interchromosomal effects in reciprocal translocation carriers.…”

Section: Comparison Of Results Obtained By Both Methodsmentioning

confidence: 99%

Segregation of chromosomes in sperm of reciprocal translocation carriers: a review

Benet

Oliver-Bonet

Cifuentes

et al. 2005

Cytogenet Genome Res

104

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Reciprocal translocations, the most frequent structural aberration in humans, are mainly transmitted by one of the parents. In order to analyze the chromosomal content of the spermatozoa from carriers of chromosomal reorganizations, two methods have been used, karyotyping of sperm chromosomes by the human-hamster system and fluorescence in situ hybridization (FISH) in decondensed sperm nuclei. In this work, we review 92 sperm chromosome segregation studies from 85 different reciprocal translocation carriers, including a triple translocation carrier. Using the human-hamster method, a total of 5,818 spermatozoa from 44 reciprocal translocation carriers have been analyzed, 43 of them carrying a single reciprocal translocation and one was a carrier of a double reciprocal translocation. A segregation analysis in a carrier of a t(2;22;11) has been also reported. Carrying out FISH in sperm nuclei, a total of 237,042 spermatozoa from 46 reciprocal translocation carriers have been analyzed. Six of these were also analyzed by the human-hamster system. Taking into account both methods, a total of 76 different reciprocal translocations have been studied. In 74 of these 76 translocations, the reorganization occurs between autosomes, and in the other two, the Y chromosome is involved. Although along general lines, there are similarities between the results obtained by the two methods of analysis, variations are observed when the distribution of the different types of segregations that produce imbalances is compared. As a general rule reciprocal translocation carriers produce more unbalanced sperm than normal or balanced sperm. The results reported also corroborate that the proportion of unbalanced forms depends on the characteristics of the reorganization and that it varies widely. Thus the importance of performing a detailed meiotic behavior analysis for each particular translocation in order to obtain enough information to give adequate genetic counseling is stressed. Aspects as to the possible overestimation of 3:1 segregations or the presence of interchromosomal effects still need to be elucidated.

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“…Indeed, several authors reported the occurrence of an ICE [Rousseaux et al, 1995;Pang et al, 1999;Rives et al, 1999;Blanco et al, 2000;Vegetti et al, 2000;Shi and Martin, 2001;Palermo et al, 2002;Anton et al, 2004;Douet-Guilbert et al, 2005;Machev et al, 2005;Vozdova et al, 2008] whereas others did not [Blanco et al, 1998;Honda et al, 1999;Estop et al, 2000;Oliver-Bonet et al, 2001Pellestor et al, 2001;Rives et al, 2003].…”

mentioning

confidence: 99%

Analysis Using Sperm-FISH of a Putative Interchromosomal Effect in Boars Carrying Reciprocal Translocations

Bonnet-Garnier

Guardia²,

Pinton³

et al. 2009

Cytogenet Genome Res

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The occurrence of interchromosomal effects (ICE) in reciprocal translocation carriers still remains contradictory in the human literature. We used the pig as an animal model to investigate whether the structure of the reciprocal translocations as well as the size and/or type of the chromosomes not involved in the rearrangement may influence the occurrence and the extent of ICE. Analyses of chromosomal sperm content by fluorescence in situ hybridization (FISH) using whole-chromosome painting probes for 7 chromosomes (1, 10, 11, 13, 18, X and Y) were carried out on sperm samples of 2 boars with normal semen parameters carrying different balanced reciprocal translocations: 38, XY, t(3;15)(q27;q13) or 38, XY, t(12;14)(q13;q21). One fertile boar with normal karyotype was also studied as a control. Aneuploidy rates for the 7 chromosomes were estimated by scoring 10,000 to 20,000 spermatozoa for each probe combination. No significant ICE was found except for chromosome 1 in the case of the t(3;15) translocation. Even if statistically significant, this ICE remained very weak and should have very little impact on the reproductive performance of the carrier boar. The size and/or type of chromosomes not involved in the translocation do not seem to have a major influence on the occurrence of ICE. The structure of the translocation could play a role, but complementary studies should be carried out to confirm this assumption.

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Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier

Cited by 21 publications

References 27 publications

Reciprocal translocations: tracing their meiotic behavior

Reciprocal translocations: tracing their meiotic behavior

Segregation of chromosomes in sperm of reciprocal translocation carriers: a review

Analysis Using Sperm-FISH of a Putative Interchromosomal Effect in Boars Carrying Reciprocal Translocations

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