XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation

Navarro, J.; Vidal, Francesca; Benet, J.; Templado, C.; Marina, S.; Egozcue, J.

doi:10.1093/oxfordjournals.humrep.a137343

Cited by 48 publications

(26 citation statements)

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“…This finding is consistent with previous published data [7-9, 11, 12, 17, 20]. The high prevalence of the alternate segregation had been presumed to occur because cis-configuration of the trivalent during meiosis favors an alternate segregation in all Rob translocations [21][22][23].…”

Section: Discussionsupporting

confidence: 93%

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Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations

Chen

Huang

Liu

et al. 2007

J Assist Reprod Genet

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Purpose To provide more genetic information about meiotic segregation behavior and the possibility of interchromosomal effects (ICE) in spermatozoa from carriers of Robertsonian (Rob) translocations. Materials and methods Meiotic segregation behavior in spermatozoa from six carriers of Rob translocations, four t(13;14), one t(14;22) and one t(13;21), was investigated by dual fluorescence in-situ hybridization (FISH). Aneuploidy for chromosomes 18, X and Y was studied by triple FISH. Results The rate of normal/balanced spermatozoa resulting from alternate segregation ranged from 78.14 to 86.88%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 11.70 and 19.53%. The higher frequencies of aneuploidy for sex chromosome were observed in three Rob translocation carriers. In addition, the increased rates of diploid were found in two t(13;14) carriers. Conclusions Alternate segregation is dominant in the different types of Rob translocations. Some carriers may be at an increased risk for ICE.

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Section: Discussionsupporting

confidence: 93%

“…Similar results were made previously by other studies [15][16][17]. This mechanism of meiotic non-disjunction for sex chromosomes may be the results of a non-random association at prophase I between the trivalent and the sex chromosomes [22,23].…”

Section: Discussionsupporting

confidence: 89%

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations

Chen

Huang

Liu

et al. 2007

J Assist Reprod Genet

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“…As a consequence, unpaired regions will appear; it has been suggested that these unpaired regions may interfere with the synaptic process of other bivalents, producing synaptic anomalies. 39,40 These abnormalities could produce meiotic arrest, but could also lead to the production of multiple aneuploidies (reviewed by Egozcue et al 38 ). Nevertheless, the variable frequency of aneuploidies reported among different control males reported by many authors, 41,42 and in infertile men 43 make necessary to consider our findings with caution, until the source of these variations can be clarified.…”

Section: European Journal Of Human Geneticsmentioning

confidence: 80%

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

et al. 2001

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Meiotic segregation of a t(4;8)(q28;p23) translocation carrier was determined by two different methods to compare the final results. A total of 352 sperm chromosome complements, obtained after human-hamster in vitro fertilisation, were analysed by whole chromosome painting, and 6590 sperm heads were studied by fluorescence in situ hybridisation (FISH). Frequencies of alternate, adjacent I, adjacent II and 3 : 1 segregations were, for sperm chromosomes, 35.5, 33.2, 19.9 and 11.3% respectively. For sperm head analysis, results were 30.5, 28.5, 20.5 and 19.5% respectively. There were no statistically significant differences between the two methods with respect to the observed frequencies of sperm with balanced and unbalanced chromosome constitutions. Among unbalanced gametes, the methods differed only in the frequency of 3 : 1 segregation (w 2 , P50.0001). Different factors that could explain this result are discussed. To determine possible interchromosomal effects, multicolour FISH was used on sperm heads. Disomy rates of sex and 18 chromosomes were higher in the translocation carrier than in the control. The differences observed were statistically significant (P50.0001 for chromosomes X and 18, and P=0.0091 for chromosome Y). European Journal of Human Genetics (2001) 9, 395 ± 403.

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“…Ta b l e 2 S i g n i f i c a n t b i v a l e n t p a i r s a s s o c i a t i o n s o f MI,22,XY,III(13q14q) (n = 41) and MI,22,XY,III(14q15q) (n = 15) Note: global mean = 0.152; 95 % CI = [0.147-0.157] a Significant bivalent pairs coinciding with those described in normal karyotypes [21] There are different non-mutually exclusive possibilities to explain such variations. Studies in Robertsonian translocation carriers have described that the reorganized chromosomes usually show asynaptic regions at pachytene which are often associated with asynaptic regions of other bivalents [40][41][42][43][44][45]. It has also been described that asynaptic regions suffer heterochromatinization and gene silencing [31,46].…”

Section: Discussionmentioning

confidence: 99%

Altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers

Solé

Blanco

Valero

et al. 2016

J Assist Reprod Genet

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Purpose The study aims to determine whether there is an altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers. Methods Metaphase I human spermatocytes from three 4 5 , X Y, d e r ( 1 3 ; 1 4 ) ( q 1 0 ; q 1 0 ) i n d i v i d u a l s a n d a 45,XY,der(14;15)(q10;q10) individual were analyzed. Proximity relationships of bivalents were established by analyzing meiotic preparations combining Leishman staining and multiplex-FISH procedures. Poisson regression model was used to determine proximity frequencies between bivalents and to assess associations with chromosome size, gene density, acrocentric morphology, and chromosomes with heterochromatic blocks. The hierarchical cluster Ward method was used to characterize the groups of bivalents with preferred proximities in a cluster analysis. Bivalent groups obtained were individually compared with those obtained in normal karyotype individuals evaluated in a previous study. Results A total of 1288 bivalents were examined, giving a total of 2289 proximity data. Only four positive significant proximities were detected for each type of Robertsonian translocation. Significant bivalent associations were only observed by small-size chromosomes for MI,22,XY,III(13q14q). These results were clearly divergent from 46,XY individuals. Moreover, cluster analysis revealed that about 30 % of the bivalents showed changes in their proximity relationships in metaphase I. Conclusions The territorial organization of bivalents in metaphase I human spermatocytes changes in the presence of a Robertsonian translocation.

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XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation

Cited by 48 publications

References 0 publications

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations

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

Altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers

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