Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization

Blanco, Joan; Egozcue, J.; Vidal, Francesca

doi:10.1093/oxfordjournals.humrep.a019241

Cited by 101 publications

(82 citation statements)

References 26 publications

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“…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: 79%

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: 79%

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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“…Analysis of all nuclei was performed using strict criteria concerning the intensity, the size and the distribution of the signals [2].…”

Section: Microscope Evaluationmentioning

confidence: 99%

Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier

Godo

Blanco

Vidal

et al. 2013

J Assist Reprod Genet

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Purpose To find out the meiotic segregation behaviour of the t(1;8;2)(q42;p21;p15), to evaluate the occurrence of interchromosomal effects, and to determine whether there is an accumulation of unbalanced products in aneuploid/diploid gametes. Methods A sequential FISH protocol based on two successive hybridization rounds over the same spermatozoa was performed to determine the segregation outcome of the rearranged chromosomes. The presence of numerical abnormalities for 13, 18, 21, X and Y was also evaluated by sperm FISH. Those aneuploid/diploid gametes were subsequently relocalized and analyzed for their segregation content through additional hybridization rounds. Results The segregation pattern observed reported a very low production of normal/balanced gametes (11.7 %). Significant increased frequencies of diploidies and disomies for chromosomes X/Y and 18 were detected (p <0.001). Aneuploid and diploid spermatozoa displayed significant increases of 5:1, 6:0 and other unexpected disjunction modes (p <0.001).Conclusions The strategy developed in this study is a reliable new approach to establish the full segregation pattern of complex chromosome rearrangements (CCR). Results corroborate the low number of normal/balanced spermatozoa produced by CCR carriers and support previous findings regarding an altered segregation pattern in gametes with numerical abnormalities. Altogether this confirms the importance of PGD as a tool to prevent the transmission of chromosomal abnormalities to the offspring in CCR patients.

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“…Aneuploidies in spermatozoa were scored according to previously described criteria for somatic nuclei [Blanco et al 1996]. Briefly, two signals for the same chromosome were separated from each other by at least a single domain.…”

Section: Selection Of Subjectsmentioning

confidence: 99%

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

Moskovtsev¹,

Alladin²,

Lo³

et al. 2012

Systems Biology in Reproductive Medicine

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Testicular spermatozoa are utilized to achieve pregnancy in couples with severe male factor infertility. Several studies suggest that aneuploidy rates in spermatozoa are elevated at the testicular level in infertile patients compared to ejaculates of normal controls. However, essential data regarding aneuploidy rates between ejaculated and testicular spermatozoa in the same individuals is lacking. The purpose of our study was to compare aneuploidy rates at the testicular and post-testicular level from the same patients with persistently high sperm DNA damage. Ejaculates and testicular biopsies were obtained from eight patients with persistently high DNA damage (>30%). Both ejaculated and testicular samples were analyzed for sperm DNA damage and sperm aneuploidy for chromosomes 13, 18, 21, X, and Y. In addition, semen samples from ten normozoospermic men presenting for fertility evaluation served as a control group. A strong correlation between the alteration of spermatogenesis and chromatin deterioration was observed in our study. In the same individuals, testicular samples showed a significantly lower DNA damage compared to ejaculated spermatozoa (14.9% ± 5.0 vs. 40.6% ± 14.8, P < 0.05), but significantly higher aneuploidy rates for the five analyzed chromosomes (12.41% ± 3.7 vs. 5.77% ± 1.2, P < 0.05). While testicular spermatozoa appear favourable for ICSI in terms of lower DNA damage, this potential advantage could be offset by the higher aneuploidy rates in testicular spermatozoa.

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Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization

Cited by 101 publications

References 26 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

Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

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