Frequency and distribution of chromosome abnormalities in human spermatozoa

Templado, C.; Bosch, Mercè; Benet, Jordi

doi:10.1159/000086890

Cited by 85 publications

(75 citation statements)

References 129 publications

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“…The absence of chiasmata has been correlated with an abnormal chromosome segregation in meiosis I both in trisomic 21 (Savage et al, 1998;Oliver et al, 2009) and 47,XXY conceptuses (Hassold et al, 1991;Lorda-Sanchez et al, 1992;Thomas et al, 2000). In the present work, chromosomes X, Y and 21 were the most commonly implicated in disomy in spermatocytes II, corroborating the results reported in spermatozoa from healthy men using FISH (reviewed by Templado et al, 2005Templado et al, , 2011.…”

Section: Low Chiasma Count In Human Spermatocytes Isupporting

confidence: 89%

“…Unexpectedly, the level of numerical abnormalities in MII spermatocytes is similar to that described in fresh donated oocytes II from young women (Sandalinas et al, 2002) and three times higher than that reported in spermatozoa from healthy donors (Templado et al, 2005. This decrease of numerical abnormalities during spermatogenesis would imply the existence of a postmeiotic checkpoint at the spermatid stage (de Rooij and de Boer, 2003;Guichaoua et al, 2005) or in spermatozoa (Rodrigo et al, 2004), arresting specifically those germ cells with aneuploidy and diploidy.…”

Section: Non-disjunction Mechanisms In Meiosis Isupporting

confidence: 71%

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Meiotic non-disjunction mechanisms in human fertile males

Uroz

Templado

2012

Human Reproduction

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background: In humans, little is known about the mechanisms of non-disjunction working in male meiosis, although considerable attention has been given to these mechanisms in female meiosis. The present study explores the origin of meiotic non-disjunction during human spermatogenesis and the chromosomes most commonly involved in this process. methods:We used Multiplex fluorescence in situ hybridization to carry out meiotic analyses in metaphase I (MI) and metaphase II (MII) spermatocytes from three fertile donors. Testicular biopsy was obtained during a vasectomy procedure.results: We examined a total of 317 MI and 248 MII spermatocytes. The frequency of numerical chromosome abnormalities at MII (14.5%) was 5.5 times higher than at MI (2.5%). We observed 88 (27.7%) spermatocytes I with chromosome bivalents with a low chiasma count, usually small chromosomes displaying two separated univalents. Chromosomes X, Y and 21 were the most commonly found as achiasmate chromosomes at MI and the most frequently involved in disomy at MII. Hyperploidy frequency in spermatocytes II (disomy) was significantly higher (P , 0.001) than that found in spermatocytes I (trisomy).conclusions: Achiasmate non-disjunction and premature separation of sister chromatids appear to be the two main non-disjunction mechanisms during the first meiotic division in human spermatogenesis, and both mechanisms contribute equally to the genesis of aneuploidy. The elevated frequencies of disomy detected in spermatocytes II are significantly higher than those previously described in human spermatozoa, suggesting the existence of a postmeiotic checkpoint monitoring numerical abnormalities.

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Section: Low Chiasma Count In Human Spermatocytes Isupporting

confidence: 89%

Section: Non-disjunction Mechanisms In Meiosis Isupporting

confidence: 71%

Meiotic non-disjunction mechanisms in human fertile males

Uroz

Templado

2012

Human Reproduction

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“…In sperm karyotypes, obtained after in vitro penetration of hamster oocytes, structural chromosome abnormalities have been observed far more frequently than numerical aberrations. [13][14][15] In a review, Templado et al 16 reported a median percentage of 6.6% of structural aberrations and 1.8% of numerical abnormalities. Several authors have explored the relationship between age of the donor and sperm structural aberrations (reviewed by Buwe et al 17 ).…”

Section: Introductionmentioning

confidence: 99%

Advanced age increases chromosome structural abnormalities in human spermatozoa

et al. 2010

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This study explores the relationship between sperm structural aberrations and age by using a multicolor multichromosome FISH strategy that provides information on the incidence of duplications and deletions on all the autosomes. ToTelvysion kit (Abbott Molecular, Abbott Park, IL, USA) with telomere-specific probes was used. We investigated the sperm of 10 male donors aged from 23 to 74 years old. The donors were divided into two groups according to age, a cohort of five individuals younger than 40 and a cohort of five individuals older than 60 years. The goal of this study was to determine (1) the relationship between donor age and frequency and type of chromosome structural abnormalities and (2) chromosomes more frequently involved in sperm structural aberrations. We found that the older patients had a higher rate of structural abnormalities (6.6%) compared with the younger cohort (4.9%). Although both duplications and deletions were seen more frequently in older men, our findings demonstrate the presence of an excess of duplications versus deletions in both groups at a ratio of 2 to 1. We demonstrate that the distribution of duplications and deletions was not linear along the chromosomes, although a trend toward a higher rate of abnormalities in larger chromosomes was observed. This work is the first study addressing the frequencies of sperm chromosome structural aberrations of all autosomes in a single assay thus making a contribution to the clarification of the amount and origin of damage present in human spermatozoa and in relation to age.

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“…Increase in length of the short arm satellites (ps+) and stalks (pstk+) of the acrocentric chromosomes (13,14,15,21,22) were also recorded [2]. The alteration was classified as a variant, when it has at least twice the size of the corresponding region on the other homologue [11].…”

Section: Classification Of Polymorphic Variationsmentioning

confidence: 99%

“…Chromosome 9, has been described as being especially prone to breaks that produce asymmetric bivalents in meiotic metaphase I spreads (Sarrate et al [14]) and structural chromosome aberrations in sperm studies [15].…”

Section: Chromosome 9 Variations and Infertilitymentioning

confidence: 99%

Correlation between Chromosomal Variants and Male Infertility in a Population of Brazilian Infertile Men

Christofolini¹,

Mafra²,

Neto³

2012

Reproductive Sys Sexual Disord

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Heterochromatin polymorphism is considered a variant of a normal karyotype but is more frequent in infertile men. The aim of this study was to evaluate the correlation between heterochromatic variants and male infertility and to discuss the possible mechanisms of how heterochromatic polymorphism might affect spermatogenesis.Methods: Cytogenetic analysis was undertaken in a group of 392 infertile men from the Andrology Outpatient Clinic of the Human Reproduction Service of the ABC School of Medicine. Additionally, C-banding was performed in men with heterochromatin polymorphism, and NOR-banding in men with satellites variations.Results: 47 patients of the sample showed chromosomal variants (12% of the sample). Considering these men, 8 presented idiopathic infertility, where 19 presented severe oligozoospermia, 18 had non-obstructive azoospermia, 2 presented recurring pregnancy loss. The most frequent chromosome involved was chromosome 9, observed in 37.5% of the cases. Increased heterochromatin of chromosome 9 isolated was present in 8 men and pericentromeric inversion of chromosome 9 isolated was present in 7 men. Both aberrations were found in one man. Increased heterochromatin of chromosome 16 was found isolated in 6 cases and associated to other variation in 3 cases. For chromosome Y, variation in heterochromatin was found in 6 cases and associated to other variation in two cases and for chromosome 1, increased heterochromatin was found only associated to other variations. Satellites' variation of chromosome 14 was found isolated in one case and associated in other case, of chromosome 21 was found isolated in 3 cases and associated in one case and of chromosome 22 was found isolated in 2 cases and associated in one case. Twenty men presented beyond chromosomal variations factors that couldn't be discharged as cause of infertility as orchites and criptorchidia. Conclusions:The incidence of heterochromatin polymorphism was high in infertile men, as observed in the present work. This increased rate in infertile males seems to be more than an incidental finding, and must be considered an important factor contributing to male infertility.

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Frequency and distribution of chromosome abnormalities in human spermatozoa

Cited by 85 publications

References 129 publications

Meiotic non-disjunction mechanisms in human fertile males

Meiotic non-disjunction mechanisms in human fertile males

Advanced age increases chromosome structural abnormalities in human spermatozoa

Correlation between Chromosomal Variants and Male Infertility in a Population of Brazilian Infertile Men

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