Numerical and structural chromosomal abnormalities detected in human sperm with a combination of multicolor FISH assays

Baumgartner, Andreas; Hummelen, Paul Van; Lowe, Xiu; Adler, I.‐D.; Wyrobek, Andrew J.

doi:10.1002/(sici)1098-2280(1999)33:1<49::aid-em6>3.0.co;2-f

Cited by 58 publications

(46 citation statements)

References 50 publications

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“…Sloter et al 23 observed a slight trend toward higher frequencies of sperm with segmental duplications vs deletions in each man, regardless of age. Likewise, several authors [28][29][30] Age and sperm chromosome structural abnormalities C Templado et al showed that duplications of 1p were more frequent than deletions in human spermatozoa. The excess of duplications observed in sperm nuclei could be a reflection of the excess in acentric fragments described in sperm karyotypes.…”

Section: Discussionmentioning

confidence: 98%

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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Section: Discussionmentioning

confidence: 98%

Advanced age increases chromosome structural abnormalities in human spermatozoa

et al. 2010

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“…Regarding possible mechanisms for these aneuploidies, it has been postulated that chemicals inducing crosslinks (DNA:DNA and/or DNA:protein) increase the probability of chromosomal nondisjunction, possibly through disturbances in recombination or kinetochore and microtubule perturbations during cell division (7,17). Therefore, OP could induce sperm aneuploidies by interfering with chromosome migration during meiosis I and II, because they alkylate DNA and form adducts that may in turn be converted to interstrand crosslinks (16,18).…”

Section: Discussionmentioning

confidence: 99%

“…It has been estimated that 4 of 1,000 live births and 35% of spontaneous abortions are aneuploid and that an important proportion of aneuploidy occurring in embryos and newborns are of paternal origin (5,6). Paternal contribution to these aneuploidies range from 10% to 100%, depending on the specific chromosome involved (7). It has been reported in a series of 66 cases of sex chromosome monosomy that 53 (80.3%) had maternal X, indicating that paternal sex chromosome loss is the most common error leading to this condition (6).…”

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confidence: 99%

“…In addition, chromosomes X and Y are more frequently damaged than autosomal chromosomes (16). On the other hand, it has been postulated that chemicals inducing crosslinks increase the probability of chromosomal nondisjunction (7,17). Therefore, OP could induce sperm aneuploidies by interfering with chromosome migration during meiosis because they alkylate DNA (16,18).…”

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confidence: 99%

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Organophosphorous Pesticide Exposure Increases the Frequency of Sperm Sex Null Aneuploidy

Recio¹,

Robbins²,

Ocampo-Gomez³

et al. 2001

Environmental Health Perspectives

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“…Recent development of chromosomespecific probes has made it possible to identify aneuploidy and translocations involving sex chromosomes in sperm, and epidemiology studies using these methods are being conducted to address the extent to which toxicants may contribute to the risk of sex chromosome (and autosomal) abnormalities (11)(12)(13)(14). As chromosome-specific probes become available for rodents (or other species), this approach can be applied in chemicalspecific toxicology studies (15,16) and extended to zygotes or preimplantation embryos to examine exposure-related effects on either the sperm or the oocyte chromosomes (17).…”

Section: The Preconceptional Windowmentioning

confidence: 99%

Workshop to identify critical windows of exposure for children's health: reproductive health in children and adolescents work group summary.

LeMasters

Perreault

Hales

et al. 2000

Environ Health Perspect

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This work group report addresses the central question: What are the critical windows during development (preconception through puberty) when exposure to xenobiotics may have the greatest adverse impact on subsequent reproductive health? The reproductive system develops in stages, with sex-specific organogenesis occurring prenatally and further maturational events occurring in the perinatal period and at puberty. Complex endocrine signals as well as other regulatory factors (genetics, growth factors) are involved at all stages. Evidence from animal models and human studies indicates that many specific events can be perturbed by a variety of toxicants, with endocrine-mediated mechanisms being the more widely studied. Prioritized research needs include basic studies on the cellular-molecular and endocrine regulation of sexual differentiation and development; increased efforts regarding potential adverse effects on development in females, including breast development; expanded animal studies on different classes of chemicals, comparing responses during development (prenatal and postnatal) with responses in adults; and, more extensive explorations regarding the reproductive biology and toxicology of puberty in humans.

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Numerical and structural chromosomal abnormalities detected in human sperm with a combination of multicolor FISH assays

Cited by 58 publications

References 50 publications

Advanced age increases chromosome structural abnormalities in human spermatozoa

Advanced age increases chromosome structural abnormalities in human spermatozoa

Organophosphorous Pesticide Exposure Increases the Frequency of Sperm Sex Null Aneuploidy

Workshop to identify critical windows of exposure for children's health: reproductive health in children and adolescents work group summary.

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