The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements

Martin, Renée H.; Rademaker, Alfred

doi:10.1159/000132905

Cited by 106 publications

(62 citation statements)

References 7 publications

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“…In another two studies on chromosome 9 aneuploidy in spermatozoa published to date, using PRINS 26 or chromosome painting, 27 the frequencies of disomy for this chromosome were similar to those for other autosomes. However, Martin and Rademaker, 28 analysing human sperm karyotypes from normal men, found that chromosomes 9 and 21 were the only autosomes to show an increased level of hyperhaploidy. The reason for increasing frequencies of disomy of chromosome 9 associated with age still remains unclear, but a tendency of chromosomes 1, 9 and 16 to show higher frequencies of disomy than other autosomes has been reported in human sperm.…”

Section: Discussionmentioning

confidence: 99%

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

et al. 2003

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A simultaneous four-colour fluorescence in situ hybridisation (FISH) assay was used in human sperm in order to search for a paternal age effect on: (1) the incidence of structural aberrations and aneuploidy of chromosome 9, and (2) the sex ratio in both normal spermatozoa and spermatozoa with a numerical or structural abnormality of chromosome 9. The sperm samples were collected from 18 healthy donors, aged 24 -74 years (mean 48.8 years old). Specific probes for the subtelomeric 9q region (9qter), centromeric regions of chromosomes 6 and 9, and the satellite III region of the Y chromosome were used for FISH analysis. A total of 190 117 sperms were evaluated with a minimum of 10 000 sperm scored from each donor. A significant linear increase in the overall level of duplications and deletions for the centromeric and subtelomeric regions of chromosome 9 (Pr0.002), chromosome 9 disomy (Po0.0001) as well as diploidy (Po0.0001) was detected in relation to age. The percentage of increase for each 10-year period was 29% for chromosome 9 disomy, 18.8% for diploidy, and ranged from 14.6 to 28% for structural aberrations. Our results indicate a linear increase in structural aberrations and disomy for chromosome 9 in sperm with respect to age.

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Section: Discussionmentioning

confidence: 99%

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

et al. 2003

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“…Inversions in chromosome 9 were also found in cytogenetic studies in men suffering from infertility. Martin and Rademaker (1990) analyzed chromosome complement in sperm taken from 98 men, using a human sperm/hamster egg fusion technique. Among individual autosomes, only chromosome 9 showed an increased frequency of hyperhaploidy.…”

Section: Discussionmentioning

confidence: 99%

Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

et al. 2001

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We describe a man with pericentric inversion 9 and constitutive heterochromatin, and a high disomy rate in his sperm cells (with all probes analyzed). The disomy rate was estimated with the following probes: 8, 9, 18, X, and Y, and was significantly higher than that in control sperm cells, while chromosome 9 showed the highest disomy frequency. The probes of X and Y together showed the same disomy frequency as X and Y alone, which indicates the same nondisjunction rate in the first meiotic division. We suggest that the interchromosomal effect found in this man differed from other findings in sperm cells of men carrying an inversion in terms of the difference in the length of the heterochromatin between the two chromosomes 9. Also, it is well known that the effect of inversion 9 with increased heterochromatin is highly variable and may even vary in members of the same family.

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“…The overall disomy frequency in sperm karyotypes from normal men in the three largest series published, using chromosome-banding techniques (Martin and Rademaker, 1990;Brandriff and Gordon, 1990;Templado et al, 1996), ranges from 0.7 to 1.7 % (Table 1). For individual chromosomes, an increased disomy frequency was observed for chromosome 1 (Brandriff and Gordon, 1990), chromosome 9 (Martin and Rademaker, 1990), chromosome 21 , and sex chromosomes (Martin and Rademaker, 1990;Templado et al, 1996).…”

Section: Sperm Aneuploidymentioning

confidence: 99%

Frequency and distribution of chromosome abnormalities in human spermatozoa

Templado

Bosch²,

Benet³

2005

Cytogenet Genome Res

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This study reviews the frequency and distribution of numerical and structural chromosomal abnormalities in spermatozoa from normal men obtained by the human-hamster system and by multicolor-FISH analysis on decondensed sperm nuclei. Results from large sperm karyotyping series analyzed by chromosome banding techniques and results from multicolor FISH in sperm nuclei (of at least 10⁴ spermatozoa per donor and per probe) were reviewed in order to establish baseline values of the sperm chromosome abnormalities in normal men. In karyotyping studies, the mean disomy frequency in human sperm is 0.03% for each of the autosomes, and 0.11% for the sex chromosomes, lower than those reported in sperm nuclei by FISH studies using a similar methodology (0.09% and 0.26%, respectively). Both types of studies coincide in that chromosome 21 and sex chromosomes have a greater tendency to suffer segregation errors than the rest of the autosomes. The mean incidence of diploidy, only available from multicolor FISH in sperm nuclei, is 0.19%. Inter-donor differences observed for disomy and diploidy frequencies among FISH studies of decondensed sperm nuclei using a similar methodology could reflect real differences among normal men, but they could also reflect the subjective application of the scoring criteria among laboratories. The mean frequency of structural aberrations in sperm karyotypes is 6.6%, including all chromosome types of abnormalities. Chromosome 9 shows a high susceptibility to be broken and 50% of the breakpoints are located in 9q, between the centromere and the 9qh+ region. Structural chromosome aberrations for chromosomes 1 and 9 have also been analyzed in human sperm nuclei by multicolor FISH. Unfortunately, this assay does not allow to determine the specific type of structural aberrations observed in sperm nuclei. An association between advancing donor age and increased frequency of numerical and structural chromosome abnormalities has been reported in spermatozoa of normal men.

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The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements

Cited by 106 publications

References 7 publications

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

Frequency and distribution of chromosome abnormalities in human spermatozoa

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