Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro fertilization-intracytoplasmic sperm injection program

Arán, Begoña; Blanco, Joan; Vidal, Francesca; Vendrell, Josep; Egozcue, Susana; Barri, P.N.; Egozcue, J.; Veiga, Anna

doi:10.1016/s0015-0282(99)00307-6

Cited by 107 publications

(61 citation statements)

References 32 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: 77%

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: 77%

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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“…38 Significant frequencies of diploid sperm have also been found in some carriers of balanced chromosome reorganisations, 39 in fathers of children with Down syndrome, 40 and in infertile patients, specially oligoasthenoteratozoospermic patients. 41,42 One possible explanation for this increase of diploid sperm frequency in older men would be the tendency of these individuals to show synaptic anomalies related to a progressively deteriorating testicular environment. 43,44 This would result in an increase in segregation defects during meiosis I, leading to an arrest of cytokinesis, and to the subsequent formation of diploid secondary spermatocytes, spermatids and spermatozoa.…”

Section: Sex Ratio In Normal and Disomic Spermmentioning

confidence: 99%

Linear increase of diploidy in human sperm with age: A four-colour FISH study

et al. 2001

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The aim of this study was to determine if donor age is associated with an increased incidence of diploidy and of disomy for the sex chromosomes and for chromosomes 6 and 21. We used simultaneous fluorescence in situ hybridisation (FISH) for chromosomes 6, 21, X and Y in sperm from 18 healthy donors, aged 24 ± 74 years (mean 48.8 years). A total of 194 024 sperm were analysed, with a minimum of 10 000 sperm scored for each donor. Our results indicate a significant increase of the level of diploidy (P=0.002), and a marginal significance of total sex chromosome disomy (P=0.055) with age. No increase was observed for disomies XX, YY, XY, 21 or 6. The percentages of increase for disomy and for diploidy ranged from 0.3 to 17% for each 10-year period. Chromosomes 6 and 21 did not segregate preferentially with the X or Y chromosomes. Our findings show a linear trend association between age and diploidy in human males.

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“…The identification of these three chromosomes by FISH was a feasible method for screening for aneuploidy in gametes. 32,33 In our study, some embryos were triploid, diploid and haploid among the 3PN, r2PN and r1PN groups, respectively. However, some embryos among these three groups lost chromosomes, which resulted in the loss of chromosomes 16, 18 and 21 in the r2PN and r1PN embryos, but no embryos with such a loss were found in the control group.…”

Section: Discussionmentioning

confidence: 49%

Diploid, but not haploid, human embryonic stem cells can be derived from microsurgically repaired tripronuclear human zygotes

Fan

Huang

et al. 2013

Cell Cycle

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Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro fertilization-intracytoplasmic sperm injection program

Cited by 107 publications

References 32 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

Linear increase of diploidy in human sperm with age: A four-colour FISH study

Diploid, but not haploid, human embryonic stem cells can be derived from microsurgically repaired tripronuclear human zygotes

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