Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei

Oliver-Bonet, María; Navarro, J.; Codina, Montserrat; Carrera, Marta; Egozcue, J.; Benet, Jordi

doi:10.1038/sj.ejhg.5200654

Cited by 43 publications

(22 citation statements)

References 36 publications

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“…Pellestor et al, 1996). However, many other laboratories have confirmed our results of an increase in disomy for chromosome 21 (Blanco et al, 1998;Oliver-Bonet et al, 2001) and the sex chromosomes (Williams et al, 1993;Scarpato et al, 1998).…”

Section: Frequency and Distribution Of Aneuploidy Among Chromosomessupporting

confidence: 81%

Mechanisms of nondisjunction in human spermatogenesis

Martin

2005

Cytogenet Genome Res

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A reduction in recombination in the pseudoautosomal region is associated with an increased frequency of aneuploid 24,XY human sperm. Similarly, individuals with paternally derived Klinefelter syndrome (47,XXY) also have a paucity of recombination in the chromosomes that have undergone nondisjunction. Meiotic studies using newly developed immunocytogenetic techniques have demonstrated errors of chromosome synapsis and significantly reduced recombination in infertile men with nonobstructive azoospermia. These men have an increased risk of aneuploidy in sperm that have been surgically removed from the testes. Thus, evidence is starting to accumulate that reduced recombination has a marked effect on the generation of aneuploid sperm.

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Section: Frequency and Distribution Of Aneuploidy Among Chromosomessupporting

confidence: 81%

Mechanisms of nondisjunction in human spermatogenesis

Martin

2005

Cytogenet Genome Res

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“…These differences could be due to the differences found in each one of the reciprocal translocations studied, even though technical differences unique to each method cannot be discarded, as the results obtained by a single sample analyzed by both methods suggest (Oliver-Bonet et al, 2001). Given that both alternate and adjacent 1 segregations distribute homologous centromeres to different poles of the chromosome spindle, it is logical that these are the most frequent segregations.…”

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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“…However, if an interstitial crossing-over occurs, the same phenotype can come from adjacent-1 segregation. Conversely, the YG and YRRG phenotypes, mainly produced by the adjacent-1 segregation, can also come from an alternate segregation in the case of interstitial crossing-over (see for instance [19,24] for details). Therefore, the alternate and adjacent-1 segregation products were considered together.…”

Section: Discussionmentioning

confidence: 99%

Estimation of the proportion of genetically unbalanced spermatozoa in the semen of boars carrying chromosomal rearrangements using FISH on sperm nuclei

2004

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-Many chromosomal rearrangements are detected each year in France on young boars candidates for reproduction. The possible use of these animals requires a good knowledge of the potential effect of the rearrangements on the prolificacy of their mates. This effect can be estimated by an accurate determination of the rate of unbalanced spermatozoa in the semen of boars which carry the rearrangements. Indeed, these spermatozoa exhibiting normal fertilizing ability are responsible for an early embryonic mortality, and then, for a decrease of the litter sizes. The "spermFISH" technique, i.e. fluorescent in situ hybridization on decondensed sperm heads, has been used on several occasions in Man, in this perspective. In livestock species, this method was formerly used mainly for semen sexing purposes. We used it, for the first time, to estimate the rates of imbalance in the semen of four boars carrying chromosomal rearrangements: two reciprocal translocations, rcp(3;15)(q27;q13) and rcp(12;14)(q13;q21), as well as two independent cases of trisomy 18 mosaicism. The rates of unbalanced gametes were relatively high for the two reciprocal translocations (47.83% and 24.33%, respectively). These values differed from the apparent effects of the rearrangements estimated using a limited number of litters: a decrease in prolificacy of 23% (estimation obtained using the results of 6 litters) and 39% (57 litters), respectively for the 3/15 and 12/14 translocations. The imbalance rates were much lower for the trisomy mosaics (0.58% and 1.13%), suggesting a very moderate effect of this special kind of chromosomal rearrangement.

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Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei

Cited by 43 publications

References 36 publications

Mechanisms of nondisjunction in human spermatogenesis

Mechanisms of nondisjunction in human spermatogenesis

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

Estimation of the proportion of genetically unbalanced spermatozoa in the semen of boars carrying chromosomal rearrangements using FISH on sperm nuclei

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