Altered segregation pattern and numerical chromosome abnormalities interrelate in spermatozoa from Robertsonian translocation carriers

Godo, Anna; Blanco, Joan; Vidal, Francesca; Sandalinas, M.; Garcia-Guixé, Elena; Antón, Ester

doi:10.1016/j.rbmo.2015.04.003

Cited by 25 publications

(25 citation statements)

References 57 publications

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“…Our results showed a significant increase in the frequencies of aneuploidy of all the investigated chromosomes (X, Y, 18, 21 and 22) with a p ‐value <.05. These results and the previously reported studies (Baccetti et al., ; Godo et al., ; Ogur et al., ) show evidence of the occurrence of ICE in Robertsonian translocations carriers. Elsewhere, in six Robertsonian translocations carriers ((13;14)/(13;21)/(14;22)), interactions between chromosomal rearrangements and ICE were studied by evaluating the disomic frequencies chromosomes X, Y and 18.…”

Section: Discussionsupporting

confidence: 89%

“…The authors found significant differences in aneuploidy rates among the studied chromosomes compared to controls (Baccetti et al., ). This event seems to be correlated with the formation of heterosynapsis during meiosis allowing pairing of the rearranged chromosomes into a trivalent structure (Anton et al., ; Godo et al., ). Such phenomenon is more obvious if at least one acrocentric chromosome (Anton et al., ; Luciani, Guichaoua, Mattei, & Morazzani, ) or a gonosome (Anton et al., ; Delobel et al., ; Godo et al., ) is involved.…”

Section: Discussionmentioning

confidence: 99%

“…This event seems to be correlated with the formation of heterosynapsis during meiosis allowing pairing of the rearranged chromosomes into a trivalent structure (Anton et al., ; Godo et al., ). Such phenomenon is more obvious if at least one acrocentric chromosome (Anton et al., ; Luciani, Guichaoua, Mattei, & Morazzani, ) or a gonosome (Anton et al., ; Delobel et al., ; Godo et al., ) is involved. In Robertsonian translocations, the unpaired autosomal segments of the translocation chromosomes are attracted by an unexplained mechanism to the sex body at the pachytene stage (Egozcue et al., ; Luciani & Guichaoua, ; Sciurano, Rahn, Rey‐Valzacchi, Coco, & Solari, ; Sciurano, Rahn, Rey‐Valzacchi, & Solari, ).…”

Section: Discussionmentioning

confidence: 99%

“…In fact, these abnormalities occur in 2% in infertile men, 10 times higher than in the general population (0.2%) (Alfarawati, Fragouli, Colls, & Wells, ; De Krom et al., ; Mau‐Holzmann, ). Reciprocal and Robertsonian translocations are the most encountered structural anomalies occurring in 0.6% and 0.9%, respectively, in infertile men (Godo, Blanco, Vidal, & Anton, ; Godo et al., ; Mau‐Holzmann, ). Generally, translocations are, fortuitously ascertained through recurrent miscarriages, a history of malformed child or infertility issues in phenotypically normal carriers (Godo et al., ; Rao et al., ).…”

Section: Introductionmentioning

confidence: 99%

“…Reciprocal and Robertsonian translocations are the most encountered structural anomalies occurring in 0.6% and 0.9%, respectively, in infertile men (Godo, Blanco, Vidal, & Anton, ; Godo et al., ; Mau‐Holzmann, ). Generally, translocations are, fortuitously ascertained through recurrent miscarriages, a history of malformed child or infertility issues in phenotypically normal carriers (Godo et al., ; Rao et al., ). Although carriers of these rearrangements are generally healthy, they are at high risk of producing aneuploid gametes.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Sperm fluorescent in situ hybridisation study of interchromosomal effect in six Tunisian carriers of reciprocal and Robertsonian translocations

et al. 2018

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Carriers of structural chromosomal anomalies, translocations and inversions are at increased risk of aneuploid gametes production. Besides the direct effect on the involved chromosomes, these rearrangements might disturb the segregation of other structurally normal chromosomes during meiosis. Such event is known as interchromosomal effect. In this study, six male carriers of translocations, four reciprocals and two Robertsonians, were investigated. In addition, seven fertile men with normal 46,XY karyotypes and normal sperm characteristics were enrolled as a control group. Spermatic fluorescent in situ hybridisation specific for chromosomes X, Y, 18, 21 and 22 was carried out. The Mann-Whitney U-test was used to compare the aneuploidy rates between patients and controls. All translocation carriers showed significantly increased frequencies of disomy of all investigated chromosomes, and diploid gametes compared with the control group (p < .05). However, disomy XY was not significantly different between controls and patients (p > .05). We have also observed a considerable interindividual variability in disomy and diploidy rates. These results confirm that the interchromosomal effect seems to exist and could contribute to higher rates of abnormal prenatal aneuploidy, resulting in a small increase in the risk of miscarriage and birth of children with congenital abnormalities and a potential reduction in fertility.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Sperm fluorescent in situ hybridisation study of interchromosomal effect in six Tunisian carriers of reciprocal and Robertsonian translocations

et al. 2018

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How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

Wiland

Olszewska

Woźniak

et al. 2020

Cell. Mol. Life Sci.

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In men with oligozoospermia, Robertsonian translocations (RobTs) are the most common type of autosomal aberrations. The most commonly occurring types are rob(13;14) and rob(14;21), and other types of RobTs are described as ‘rare’ cases. Based on molecular research, all RobTs can be broadly classified into Class 1 and Class 2. Class 1 translocations produce the same breakpoints within their RobT type, but Class 2 translocations are predicted to form during meiosis or mitosis through a variety of mechanisms, resulting in variation in the breakpoint locations. This review seeks to analyse the available data addressing the question of whether the molecular classification of RobTs into Classes 1 and 2 and/or the type of DD/GG/DG symmetry of the involved chromosomes is reflected in the efficiency of spermatogenesis. The lowest frequency value calculated for the rate of alternate segregants was found for rob(13;15) carriers (Class 2, symmetry DD) and the highest for rob(13;21) carriers (Class 2, DG symmetry). The aneuploidy values for the rare RobT (Class 2) and common rob(14;21) (Class 1) groups together exhibited similarities while differing from those for the common rob(13;14) (Class 1) group. Considering the division of RobT carriers into those with normozoospermia and those with oligoasthenozoospermia, it was found that the number of carriers with elevated levels of aneuploidy was unexpectedly quite similar and high (approx. 70%) in the two subgroups. The reason(s) that the same RobT does not always show a similar destructive effect on fertility was also pointed out.

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Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR)

Mateu‐Brull

Rodrigo

Peinado

et al. 2019

J Assist Reprod Genet

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Altered segregation pattern and numerical chromosome abnormalities interrelate in spermatozoa from Robertsonian translocation carriers

Cited by 25 publications

References 57 publications

Sperm fluorescent in situ hybridisation study of interchromosomal effect in six Tunisian carriers of reciprocal and Robertsonian translocations

Sperm fluorescent in situ hybridisation study of interchromosomal effect in six Tunisian carriers of reciprocal and Robertsonian translocations

How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR)

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