Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Pastuszek, Ewa; Kiewisz, Jolanta; Kulwikowska, Patrycja; Łukaszuk, Mariusz; Łukaszuk, Krzysztof

doi:10.5603/fhc.a2015.0032

Cited by 20 publications

(21 citation statements)

References 35 publications

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“…What about spermatogenesis for these patients and the possible links between germ cell production and meiotic segregation? Abnormal semen parameters were found in 82.6% (19 for 23) of our RobT carriers which support the fact that semen parameters of RobT carriers are significantly lower than those of men with normal karyotype [ 53 ]. Altered semen parameters have previously been correlated with aneuploidy in RobT carriers [ 18 ] and suggested implication in malsegregation rates [ 21 ].…”

Section: Discussionsupporting

confidence: 74%

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature

Martinez

Devillard

et al. 2018

Basic Clin. Androl.

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BackgroundRobertsonian translocations (RobT) are common structural chromosome rearrangements where carriers display a majority of chromosomally balanced spermatozoa from alternate segregation mode. According to some monotony observed in the rates of balanced segregation, is sperm FISH analysis obsolete for RobT carriers?MethodsRetrospective cohort research study on 23 patients analyzed in our center from 2003 to 2017 and compared to the data of 187 patients in literature from 1983 to 2017.Robertsonian translocation carriers were divided in six groups according to the chromosomes involved in the translocation: 9 patients from our center and 107 from literature carrying 45,XY,der(13;14) karyotype, 3 and 35 patients respectively with 45,XY,der(14;21), 5 and 11 patients respectively with 45,XY,der(13;15), 4 and 7 patients respectively with 45,XY,der(14;15), 1 and 4 patients respectively with 45,XY,der(13;22),and 1 and 10 patients respectively with 45,XY,der(14;22).ResultsAlternate segregation mode is predominant in our group of Robertsonian translocation carriers with 73.45% ±8.05 of balanced spermatozoa (min 50.92%; max 89.99%). These results are compliant with the data from literature for all translocations types (p > 0.05) and are consistent among the different types of Robertsonian translocations (p > 0.05) except for der(13;15) that exhibit lower balanced spermatozoa rates (p < 0.05 versus der(13;14), der(14;21), (13;21) and der(15;22)). Normozoospermic patients also display a significantly (p < 0.01) higher rate of balanced sperm cells than patients with abnormal seminograms whatever the defect implied.ConclusionsAccording to the discrepancies observed between der(13;15) and all the other Rob T carriers, the differences observed among patients presenting normal and abnormal sperm parameters and the input in genetical counselling, sperm FISH does not seem obsolete for these patients. Moreover, it seems important to collect more data for rare RobT.

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Section: Discussionsupporting

confidence: 74%

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature

Martinez

Devillard

et al. 2018

Basic Clin. Androl.

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“…Since structural chromosomal aberrations are up to 10 times more common in infertile men than in fertile controls, karyotypes are important in the work-up of infertile men (5). Structural chromosomal abnormalities in men can lead to abnormal sperm concentrations while leading to male infertility or increasing miscarriages (6,7). Reciprocal translocations are mainly structural chromosomal abnormalities, the carriers of which can be phenotypically normal but may experience reduced fertility and spontaneous abortions (8).…”

Section: Introductionmentioning

confidence: 99%

Translocation breakpoints of chromosome 3 in male carriers: a report oftwelve cases and a review of the literature

Zhang¹,

Li²,

Zhu³

et al. 2018

Turk J Med Sci

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Background/aim: This study aimed to explore the breakpoints in chromosome 3 translocation and the clinical features present in male carriers to enable informed genetic counseling of these patients. Materials and methods: A total of 5235 men who were infertile or receiving counseling for infertility were recruited. Cytogenetic analyses were performed using G-banding. A search for translocations on chromosome 3 involved in male infertility was performed using PubMed, Google Scholar, and CNKI. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were also analyzed. Results: Among the 82 patients with balanced reciprocal translocations among 5235 male patients, 12 patients were carriers of chromosome 3 translocation: two presented with pregestational infertility, while 10 presented with gestational infertility. The breakpoint at 3p13 was related to pregestational infertility, whereas those at 3p23, 3q10, 3q12, 3q21, 3q25, and 3q29 were related to gestational infertility. By an analysis combining data from the literature, 63 carriers of chromosome 3 translocation were reviewed and all breakpoints at chromosome 3 were correlated with gestational infertility. Conclusion: All breakpoints at chromosome 3 were correlated with gestational infertility. The breakpoints at 3q12 and 3q29 were the most common. Carriers of chromosome 3 translocation should thus be counseled on the need for other chromosomal breakpoints and preimplantation genetic diagnosis or prenatal testing.

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“…Chromosomal defects may affect the development of male gonads and the urogenital tract. Moreover, abnormalities in germ cell maturation lead to the production of malfunctioning spermatozoa (4).…”

Section: Introductionmentioning

confidence: 99%

Chromosome segregation and chromatin integrity in spermatozoa from a t(2;8)(p24;p21)mat carrier: A case-report

García-Vielma

Dávila-Rodríguez

Cortés‐Gutiérrez

2018

IJRM

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Background: Chromosome rearrangements can produce genomic imbalance in gametes which causes a drastic decrease in fertility. Several studies have described the relationship between high levels of DNA damage and chromosomal alterations in the spermatozoa of infertile or subfertile males. However, the nature of this relation is poorly understood. In this study, the meiotic segregation pattern and chromatin integrity were analyzed in the ejaculated spermatozoa of a 46, XY, t(2;8)(p24;p21)mat carrier with normozoospermia and a lack of conception. Case: A 39-year-old infertile man with a 46, XY, t(2;8)(p24;p21)mat inherited from his mother, was studied. The wife of the proband (30 yrs old) had a normal karyotype and no reproductive problems. The meiotic segregation pattern and aneuploidy of chromosome-8 and chromosome-2 were analyzed by FISH. Sperm DNA damage was evaluated by the Sperm Dispersion Chromatin, alkaline comet assay and DNA breaking detection. Five healthy male donors were included as controls. The frequency of genetically unbalanced spermatozoa was 61.6%. Analysis of the aneuploidy of chromosome-8 and chromosome-Y revealed approximately three and 24 fold increased level respectively in comparison with that of the control group. Conclusion: We suggest that the accumulation of genetically unbalanced spermatozoa, and increased sperm aneuploidy level is related to male infertility. Interestingly, the case described here has a high level of sperm chromosomal imbalance appears to be linked to sperm DNA fragmentation status. This information could be useful in assisted reproductive techniques.

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Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Cited by 20 publications

References 35 publications

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature

Translocation breakpoints of chromosome 3 in male carriers: a report oftwelve cases and a review of the literature

Chromosome segregation and chromatin integrity in spermatozoa from a t(2;8)(p24;p21)mat carrier: A case-report

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