Sperm segregation analysis of a complex chromosome rearrangement, 2;22;11, by whole chromosome painting

Cifuentes, P.; Navarro, J.; Míguez, L.; Egozcue, J.; Benet, J.

doi:10.1159/000015101

Cited by 24 publications

(26 citation statements)

References 25 publications

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“…Regarding the adjacent II frequencies observed, the excess of sperm products with short interstitial segments, 23, 74, +der (8), over sperm products with long interstitial segments, 23, 78, +der(4), can be explained by the above mentioned hypothesis of unresolved chiasmata.…”

Section: European Journal Of Human Geneticsmentioning

confidence: 85%

“…The study of the t(4;8)(q28;p23) carrier has shown that the frequencies of unbalanced sperm evaluated by the human ± hamster technique and of sperm nuclei study o-y 309 (4.7) 7 (2.0) n,74,+der(4),+der (8) g-g-o-y 120 (1.8) 1 (0.3) n,74 g 131 (2.0) 6 (1.7) n,78,+der(4),+der (8) g-o-o-y-y 62 (0.9) 6 (1.7) n,74,78,+der (4) g-y 295 (4.5) 7 (2.0) n,+der (8) g-o-o-y 181 (2.7) ± ( ± ) n,74,78,+der (8) …”

Section: Discussionmentioning

confidence: 99%

“…8 Slides with human sperm chromosomes were stored at 7208C until hybridisation. To obtain sperm nuclei, an aliquot of frozen spermatozoa was thawed and washed in NaCl 0.9% to eliminate cryoprotectant.…”

Section: Methodsmentioning

confidence: 99%

“…The human ± hamster in vitro fertilisation 7 allows the study of the chromosome constitution of human spermatozoa using banding and FISH techniques 8 (for a review see Cifuentes et al 9 ). Up to now, 40 translocation carriers have been analysed.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

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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Section: European Journal Of Human Geneticsmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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

et al. 2001

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“…To date, a few studies have examined segregation in a CCR, a t(2;11;22) [8] , a t(5;13;14) [9], and a t(1;19;13) [10], and these have found much higher frequencies of unbalanced chromosome complements (86.5%, 69.4%, 75.9% respectively). However, a study, similar to this one, that examined chromosome specific frequency of unbalanced complements in a t(2;4;8), found rates lower than those reported here, 3.3% in chromosome 4 and 4.8% chromosomes in chromosome 8 [11].…”

Section: Discussionmentioning

confidence: 99%

Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement

Kirkpatrick

2011

J Assist Reprod Genet

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Purpose Complex chromosomal rearrangements (CCR) are rare rearrangements involving more than two chromosomes and more than two breakpoints. CCR are associated with male infertility as a result of the disruption of spermatogenesis due to complex meiotic configurations and the production of chromosomally abnormal sperm. We examined a carrier of a t(1:2:10) CCR in order to determine the patterns of segregation and any presence of an interchromosomal effect (ICE). Methods Centromeric, locus specific and telomeric probes (Vysis, USA) were used for the study. On~1,000 sperm nuclei from the reciprocal translocation carrier, dual color Fluorescence in situ hybridization (FISH) was performed on each of the involved chromosomes to determine the patterns of segregation. FISH was also performed on chromosome 13, 18, 21, X and Y to determine any ICE. Results We observed abnormal chromosome complements in 24.3%, 19.5% and 15.8% of sperm for chromosomes 2, 10 and 1, respectively. There was a significantly increased rate of ICEs for chromosomes 13 and 21 when compared with controls. Conclusions CCR may present a lower risk for producing unbalanced chromosomes than other studies have indicated.CCRs may be at an increased risk for ICE especially among acrocentric chromosomes.

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Preimplantation genetic diagnosis for complex chromosome rearrangements

Escudero

Estop

Fischer

et al. 2008

American J of Med Genetics Pt A

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Complex chromosome rearrangements (CCR) are structural rearrangements that involve more than two breakpoints. The most common ones involve three chromosomes and three breakpoints, but double translocations can also occur. Theoretically, the potential for chromosome imbalance in the gametes of CCR carriers is higher than for simple translocations, and thus they are at an even higher risk of recurrent miscarriage. Preimplantation genetic diagnosis (PGD) has been shown to significantly reduce the risk of repeated pregnancy loss in translocation carriers, and thus it is well indicated for CCR. Here we describe different approaches for PGD of CCRs. After PGD of five couples carriers of CCR, only 6.4% of embryos were found normal or balanced, but the transfer of these six embryos into four couples, resulted in two pregnancies, one with normal non-identical twins, and the other with a balanced karyotype. Thus the implantation rate was 50%, and the pregnancy per retrieval was 40%, with 0% spontaneous abortions and 0% unbalanced offspring. This compares favorably with a prior history of spontaneous abortions, unbalanced offspring, and low fertility.

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Sperm segregation analysis of a complex chromosome rearrangement, 2;22;11, by whole chromosome painting

Cited by 24 publications

References 25 publications

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

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

Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement

Preimplantation genetic diagnosis for complex chromosome rearrangements

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