Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review

Guttenbach, Martina; Engel, Wolfgang; Schmid, Michael

doi:10.1007/s004390050459

Cited by 147 publications

(120 citation statements)

References 118 publications

(111 reference statements)

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“…Preliminary data of FISH analysis on sperm of males with three sex chromosomes shows a small but significant increased frequency of hyperploid sperm as compared to the normal sperm (see for review Gutenbach and others). [17][18][19][20] In this study there were six cases of a structural Y-chromosome aberration (Table 2), an extremely rare occurrence in the normal newborn male population. In four cases we were unable to study the inheritance pattern of the aberration.…”

Section: Sex Chromosomal Aberrations and Their Consequencesmentioning

confidence: 88%

“…4 As stated earlier, cytogenetic sperm studies by FISH analysis to detect numerical aberrations and/or by ICSI on human sperm in mouse or hamster oocytes to obtain a complete karyotype could be very helpful in assessing these risk figures. 20,25 For the time being, it seems reasonable to assume that these risks must be at least the same as for Chromosomal aberrations in male ICSI candidates JHAM Tuerlings et alnormal fertile carriers of a balanced autosomal aberration. Fortunately, the presence of unbalanced karyotypes in the foetus can in most cases be detected by means of prenatal diagnosis.…”

Section: Autosomal Aberrations and Their Consequencesmentioning

confidence: 99%

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Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience

et al. 1998

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The chance of a male with severe oligozoospermia or azoospermia achieving a pregnancy has undergone a revolutionary increase with the introduction of the intracytoplasmic sperm injection technique (ICSI). However, since ICSI circumvents part of the natural sperm selection mechanisms, the possible transmission of genetic defects to the offspring is a major concern. Cytogenetic analysis is a relatively simple technique to identify at least the carriers of a chromosomal aberration before starting the ICSI procedure. In order to assess the frequency of chromosomal aberrations in male ICSI candidates, we have performed a nationwide cytogenetic study. Of the 1792 males examined, 72 (4.0%) revealed a chromosomal aberration, and one individual even had two. Numerical sex chromosomal aberrations and Robertsonian translocations predominated, followed by reciprocal translocations, inversions and supernumerary marker chromosomes. The different implications, in case a chromosomal aberration is encountered prior to ICSI, are discussed.

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Section: Sex Chromosomal Aberrations and Their Consequencesmentioning

confidence: 88%

Section: Autosomal Aberrations and Their Consequencesmentioning

confidence: 99%

Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience

et al. 1998

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“…The use of the spermFISH technique for the analysis of segregation products in the semen of individuals carrying chromosomal rearrangements has frequently been reported in Man (see for instance [16] for a review). Conversely, such an application has never been carried out before in livestock species.…”

Section: Discussionmentioning

confidence: 99%

Estimation of the proportion of genetically unbalanced spermatozoa in the semen of boars carrying chromosomal rearrangements using FISH on sperm nuclei

2004

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-Many chromosomal rearrangements are detected each year in France on young boars candidates for reproduction. The possible use of these animals requires a good knowledge of the potential effect of the rearrangements on the prolificacy of their mates. This effect can be estimated by an accurate determination of the rate of unbalanced spermatozoa in the semen of boars which carry the rearrangements. Indeed, these spermatozoa exhibiting normal fertilizing ability are responsible for an early embryonic mortality, and then, for a decrease of the litter sizes. The "spermFISH" technique, i.e. fluorescent in situ hybridization on decondensed sperm heads, has been used on several occasions in Man, in this perspective. In livestock species, this method was formerly used mainly for semen sexing purposes. We used it, for the first time, to estimate the rates of imbalance in the semen of four boars carrying chromosomal rearrangements: two reciprocal translocations, rcp(3;15)(q27;q13) and rcp(12;14)(q13;q21), as well as two independent cases of trisomy 18 mosaicism. The rates of unbalanced gametes were relatively high for the two reciprocal translocations (47.83% and 24.33%, respectively). These values differed from the apparent effects of the rearrangements estimated using a limited number of litters: a decrease in prolificacy of 23% (estimation obtained using the results of 6 litters) and 39% (57 litters), respectively for the 3/15 and 12/14 translocations. The imbalance rates were much lower for the trisomy mosaics (0.58% and 1.13%), suggesting a very moderate effect of this special kind of chromosomal rearrangement.

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“…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. 29 Heterochromatin characteristically has lower recombination rates and this has been proposed as playing a crucial role in chromosome pairing. Furthermore, synaptonemal complexes are structurally different in euchromatic and heterochromatic regions, suggesting that homologous partner recognition is due to a higher level of chromosome organisation rather than to sequence homology.…”

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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Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review

Cited by 147 publications

References 118 publications

Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience

Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience

Estimation of the proportion of genetically unbalanced spermatozoa in the semen of boars carrying chromosomal rearrangements using FISH on sperm nuclei

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

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