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; Ma, Sai

doi:10.1016/j.fertnstert.2008.07.1686

Cited by 21 publications

(38 citation statements)

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“…The results of the ICE analysis were previously reported [7]. When compared with pooled fertile controls, the patient showed a significant increase in disomy for chromosomes 13 (0.32% vs. 0.20% in controls, P<0.05) and 21 (0.45% vs. 0.25% in controls, P<0.001).…”

Section: Resultssupporting

confidence: 69%

“…While these results may indicate the presence of an ICE, the frequencies of disomy are not significant when compared with OAT men [7], suggesting that the increased level of disomy may be attributable to the patient's OAT status.…”

Section: Discussionmentioning

confidence: 62%

“…These included p (SpectrumGreen) and q (SpectrumOrange) subtelomere probes for each of chromosomes 1, 2, and 10 (all probes Vysis Inc., Downers Grove, IL, USA). ICE were analyzed as previously reported [7]. Sperm were scored as previously described [6].…”

Section: Methodsmentioning

confidence: 99%

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Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement

Kirkpatrick

2011

J Assist Reprod Genet

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Purpose Complex chromosomal rearrangements (CCR) are rare rearrangements involving more than two chromosomes and more than two breakpoints. CCR are associated with male infertility as a result of the disruption of spermatogenesis due to complex meiotic configurations and the production of chromosomally abnormal sperm. We examined a carrier of a t(1:2:10) CCR in order to determine the patterns of segregation and any presence of an interchromosomal effect (ICE). Methods Centromeric, locus specific and telomeric probes (Vysis, USA) were used for the study. On~1,000 sperm nuclei from the reciprocal translocation carrier, dual color Fluorescence in situ hybridization (FISH) was performed on each of the involved chromosomes to determine the patterns of segregation. FISH was also performed on chromosome 13, 18, 21, X and Y to determine any ICE. Results We observed abnormal chromosome complements in 24.3%, 19.5% and 15.8% of sperm for chromosomes 2, 10 and 1, respectively. There was a significantly increased rate of ICEs for chromosomes 13 and 21 when compared with controls. Conclusions CCR may present a lower risk for producing unbalanced chromosomes than other studies have indicated.CCRs may be at an increased risk for ICE especially among acrocentric chromosomes.

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Section: Resultssupporting

confidence: 69%

Section: Discussionmentioning

confidence: 62%

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Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement

Kirkpatrick

2011

J Assist Reprod Genet

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“…In fact, variations found in the studies presented here are of the same order as those that are commonly found in the literature about infertile men with a normal karyotype but altered sperm parameters [15,31].…”

Section: Meiotic Segregation Studies Several Workers Have Investigatesupporting

confidence: 83%

Genetic aspects of monomorphic teratozoospermia: a review

Braekeleer

Nguyen

Morel

et al. 2015

J Assist Reprod Genet

113

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Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology over 85 % in sperm. When all the spermatozoa display a unique abnormality, teratozoospermia is said to be monomorphic. Two forms of monomorphic teratozoospermia, representing less than 1 % of male infertility, are recognized: macrozoospermia (also called macrocephalic sperm head syndrome) and globozoospermia (also called round-headed sperm syndrome). Macrozoospermia is defined as the presence of a very high percentage of spermatozoa with enlarged head and multiple flagella. Meiotic segregation studies in 30 males revealed that over 90 % of spermatozoa were aneuploid, mainly diploid. Sperm DNA fragmentation studies performed in a few patients showed an increase in DNA fragmentation index compared to fertile men. Four mutations in the AURKC gene, a key player in meiosis and more particularly in spermatogenesis, have been found to be responsible for macrozoospermia. Globozoospermia is characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. The rate of aneuploidy of various chromosomes in spermatozoa from 26 globozoospermic men was slightly increased compared to fertile men. However, this increase was of the same order as that commonly found in infertile men with altered sperm parameters. The majority of the studies found that globozoospermic males had a sperm DNA fragmentation index higher than in fertile men. Mutations or deletions in three genes, SPATA16, PICK1 and DPY19L2, have been shown to be responsible for globozoospermia. Identification of the genetic causes of macrozoospermia and globozoospermia should help refine diagnosis and treatment of these patients, avoiding long and painful treatments. Elucidating the molecular causes of these defects is of utmost importance as intracytoplasmic sperm injection (ICSI) is very disappointing in these two pathologies.

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“…The risk of male's sperm aneuploidy used for intracytoplasmic sperm injection (ICSI) needs to be evaluated to prevent the further aneuploidy in the offspring of these men. Some studies [3,4] revealed that the infertile men with normal karyotypes possessed higher frequency of sperm aneuploidy, specifically the sex chromosomes. Male carriers of Robertsonian translocations are vulnerable for fertility problems as evident from 14 Robertsonian carriers [5].…”

Section: Dear Editormentioning

confidence: 99%