A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes

Kirkpatrick, Gordon; Ferguson, K.; Gao, H.; Tang, Steven S.; Chow, Victor; Yuen, Basil Ho; Ma, Sai

doi:10.1093/humrep/den126

Cited by 65 publications

(23 citation statements)

References 25 publications

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“…Comparison between our data on malsegregation of Robertsonian translocations (regardless of the sperm count) and previous data (Perrin et al (14,(29)(30)(31), with very low aneuploidy rates for normozoospermic 46,XY patients and higher rates for oligozoospermic 46,XY patients. Oligozoospermic patients with a normal karyotype displayed higher aneuploidy rates than normozoospermic 46,XY patients for gonosomes (1.26% vs. 0.45%, respectively; P¼.0156) and the acrocentric chromosomes 13 (1.69% vs. 0.25%, respectively; P¼.0045) and 21 (1.72% vs. 0.29%, respectively; P¼.0045), but not for chromosome 18.…”

Section: Tablesupporting

confidence: 71%

“…These results suggest that altered spermatogenesis and elevated FSH levels could induce or be associated with abnormal de novo meiotic segregation errors (32,33). Moreover, oligozoospermia could lead to the reduced selection of abnormal sperm during maturation (14,31,34). Although few patients were available for ICE analysis for chromosomes 13 (n ¼ 3) and 21 (n ¼ 6), and considering the possible interindividual variability, we observed a higher aneuploidy rate in normozoospermic RobT patients (compared with control patients) for acrocentric chromosomes 13 (1.26 vs. 0.25%; P¼.0304) and 21 (1.35% vs. 0.29%; P¼.0045); this suggests that of the chromosomes analyzed here (13, 18, 21, X, and Y), the RobT trivalent's ICE is restricted to chromosomes 13 and 21, because no impact on chromosome 18 or the gonosomes was seen.…”

Section: Tablementioning

confidence: 96%

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The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type

Ferfouri

Selva

Boitrelle

et al. 2011

Fertility and Sterility

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Section: Tablesupporting

confidence: 71%

Section: Tablementioning

confidence: 96%

The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type

Ferfouri

Selva

Boitrelle

et al. 2011

Fertility and Sterility

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“…All the seven chromosomes evaluated (13,15,18,21,22, X and Y) had a significantly increased rate of disomic (2.4-to 11.0-fold, mean: 5.3) and diploid (1.7-fold) gametes compared with the chromosomes of the control group (P!0.05). This result is in accordance with the previous findings of simple translocation carriers and confirmed ICE occurrence (Pellestor et al 2001, Kirkpatrick et al 2008. 23,-11,+der(10) (0/0%) ; 23,-6,-10,+der(6),+der(11) (0/0%) ; 23,-6,-11,+der(10),+der(11) (7/0.50%)…”

Section: Discussionsupporting

confidence: 93%

Sperm FISH and chromatin integrity in spermatozoa from a t(6;10;11) carrier

Olszewska

Huleyuk²,

Frączek³

et al. 2014

Reproduction

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Complex chromosome rearrangements (CCRs) are structurally balanced or unbalanced aberrations involving more than two breakpoints on two or more chromosomes. CCRs can be a potential reason for genomic imbalance in gametes, which leads to a drastic reduction in fertility. In this study, the meiotic segregation pattern, aneuploidy of seven chromosomes uninvolved in the CCR and chromatin integrity were analysed in the ejaculated spermatozoa of a 46,XY,t(6;10;11)(q25.1;q24.3;q23.1)mat carrier with asthenozoospermia and a lack of conception. The frequency of genetically unbalanced spermatozoa was 78.8% with a prevalence of 4:2 segregants of 38.2%, while the prevalence of the adjacent 3:3 mode was 35.3%. Analysis of the aneuploidy of chromosomes 13, 15, 18, 21, 22, X and Y revealed an approximately fivefold increased level in comparison with that of the control group, indicating the presence of an interchromosomal effect. Sperm chromatin integrity status was evaluated using chromomycin A3 and aniline blue staining (deprotamination), acridine orange test and TUNEL assay (sperm DNA fragmentation). No differences were found when comparisons were made with a control group. We suggest that the accumulation of genetically unbalanced spermatozoa, significantly increased sperm aneuploidy level and decreased sperm motility (20%, progressive) were not responsible for the observed lack of reproductive success in the analysed infertile t(6;10;11) carrier. Interestingly, in the case described herein, a high level of sperm chromosomal imbalance appears not to be linked to sperm chromatin integrity status.

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“…However, its existence still remains a subject of debate. Increased frequency of aneuploidy, mainly of sex chromosomes, might also be attributed to an abnormal spermiogram that is observed in most men with translocations [16].…”

Section: Introductionmentioning

confidence: 99%

Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15)

Kašíková

Vozdová

Prinosilova

et al. 2012

J Assist Reprod Genet

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Purpose To determine the percentage of unbalanced spermatozoa and an interchromosomal effect in two carriers of balanced translocations t(13;15)(q32;q26) and t(13;15)(q32; p11.2). Methods Sperm nuclei analysis by fluorescent in situ hybridization for detection of percentage of unbalanced spermatozoa and sperm with disomy of chromosomes X, Y, 8, 18, 21 and diploidy. Results The incidence of unbalanced spermatozoa was 50.5 % and 44.6 % in patient 1 (P1) and patient 2 (P2), respectively. Partial disomy of chromosome 13 was detected in 13.4 % and 21.3 % of sperm in P1 and P2, respectively. The unbalanced karyotype der(15)t(13;15) was found previously in a son of P1 and in two adult relatives, and prenatally in the family of P2. This demonstrates a high risk of delivering an affected offspring. Significantly increased frequencies of chromosomes 8, 18, X and XY disomy and diploidy were observed in P2, which might either indicate an interchromosomal effect or be related to his asthenoteratozoospermia. Conclusions Since the proportions of unbalanced spermatozoa and the risk of delivering an affected offspring are high, prenatal or preimplantation genetic diagnosis is recommended for such patients.

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A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes

Cited by 65 publications

References 25 publications

The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type

The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type

Sperm FISH and chromatin integrity in spermatozoa from a t(6;10;11) carrier

Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15)

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