Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation

Cifuentes, P.; Navarro, J.; Blanco, Joan; Vidal, Francesca; Míguez, L.; Egozcue, J.; Benet, J.

doi:10.1038/sj.ejhg.5200274

Cited by 36 publications

(22 citation statements)

References 25 publications

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“…Dual-colour FISH with centromeric probes enabled the authors to differentiate between alternate and adjacent-1 segregation because one of the breakpoints had a centromeric position. In our study, as in other published data (Cifuentes et al 1999;Van Hummelen et al 1997;Estop et al 1998;Blanco et al 1998Martini et al 1998Geneix et al 2002), a three-colour FISH analysis using a locusspecific probe for the translocated fragment and centromeric probes has enabled the detection of all types of segregations. The differentiation of adjacent-1 and alternate segregation was also possible because the interstitial segment at meiosis 1 is short, reducing considerably the probability of an interstitial chiasma (Armstrong and Hulten 1998).…”

Section: Discussionsupporting

confidence: 61%

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

et al. 2003

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luorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier Abstract A couple was referred for exploration of repetitive abortions. The man was found to be a carrier of a balanced reciprocal translocation t(9;10)(q11;p11.1). The meiotic segregation of chromosomes 9 and 10 was analysed in 5,157 spermatozoa from this translocation carrier and in 15,255 spermatozoa from three control donors using three-colour fluorescence in situ hybridisation (FISH). The theoretical viability of the different segregation patterns was performed using the computer system HC Forum developed by the Department of Cytogenetics at the Grenoble University Medical School, La Tronche, France. A normal or balanced constitution was found in 56.25% of the analysed spermatozoa. The tertiary 3:1 segregation mode was the most frequently observed (14.37%). The frequencies of adjacent-1, adjacent-2 and 3:1 interchange modes were 12.85, 9.38 and 7.14% respectively. The cumulative frequency of nonviable imbalance was estimated at 20.91% according to the theorical viability of the different segregation patterns. Spermatozoa aneuploidy frequency was also evaluated for chromosomes X, Y and 18, and there was no evidence of interchromosomal effect in spermatozoa from the translocation carrier. FISH analysis of spermatozoa in combination with the viability theorical estimation of the different segregation patterns could be considered a useful tool for genetic counselling in carriers of reciprocal translocation.

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Section: Discussionsupporting

confidence: 61%

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

et al. 2003

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“…It has been proposed that distortions in adjacent 1 and 2 proportions can be caused by the presence of unfinished recombinations in MI (Van Hummelen et al, 1997). However, results obtained in other studies do not agree with this explanation (Cifuentes et al, 1999a;Honda et al, 1999). In relation to the 3:1 segregation, in general there is an excess of monosomic spermatozoa compared to the complementary trisomic spermatozoa.…”

Section: Comparison Of Results Obtained By Both Methodscontrasting

confidence: 52%

“…There are different individual translocation heterozygotes with the same translocated chromosomes which show different segregation frequencies. This is the case, for example, of two individuals who are carriers of a t(5;7) (Estop et al, 1995;Cifuentes et al, 1999a). It is possible that, in this case, the frequency of the recombination phenomena can be altered due to the position of the breakpoints, so that the cause of the differences in the segregation pattern is the presence or absence of chromosomal exchanges.…”

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

105

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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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“…This approach has been used successfully on many occasions in Man to study the segregation products of various chromosomal rearrangements [1,4,5,7,20,21,40]. In livestock species, the spermFISH technique was formerly used to quantify X-and Y-bearing sperm in cattle [17,28,31,36] and pigs [23], as well as for the estimation of aneuploidy rates in pigs [34].…”

Section: Introductionmentioning

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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Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation

Cited by 36 publications

References 25 publications

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

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

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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