Complex chromosomal rearrangements: origin and meiotic behavior

Pellestor, Franck; Anahory, T.; Lefort, Geneviève; Puechberty, Jacques; Liehr, Thomas; Hédon, B.; Sarda, Pierre

doi:10.1093/humupd/dmr010

Cited by 163 publications

(186 citation statements)

References 186 publications

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“…Besides, Robertsonian translocations were found in female partners of two couples. Couples carrying balanced chromosomal rearrangements can produce abnormal gametes with unbalanced chromosomal rearrangement during gametogenesis and transfer this abnormality to their foetus, which may result in either RSA or congenital abnormalities [31,32]. This could be the possible cause of RSA in couples of our study harbouring balanced translocations.…”

Section: S No Cytogenetic Grade Karyotypementioning

confidence: 84%

Occurrence of Chromosomal Alterations in Recurrent Spontaneous Abortion Couples: A Case-Only Study from Kashmir, North India

Zargar¹,

Malla²,

Dar³

2015

J Genet Syndr Gene Ther

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Section: S No Cytogenetic Grade Karyotypementioning

confidence: 84%

Occurrence of Chromosomal Alterations in Recurrent Spontaneous Abortion Couples: A Case-Only Study from Kashmir, North India

Zargar¹,

Malla²,

Dar³

2015

J Genet Syndr Gene Ther

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“…To date, a few studies have examined segregation in a CCR, a t(2;11;22) [8] , a t(5;13;14) [9], and a t(1;19;13) [10], and these have found much higher frequencies of unbalanced chromosome complements (86.5%, 69.4%, 75.9% respectively). However, a study, similar to this one, that examined chromosome specific frequency of unbalanced complements in a t(2;4;8), found rates lower than those reported here, 3.3% in chromosome 4 and 4.8% chromosomes in chromosome 8 [11].…”

Section: Discussionmentioning

confidence: 99%

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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“…The intrinsic complex nature of these rearrangements involves a wide range of categories. They can be classified according to the total number of breaks, the location/ distribution of breakpoints or the chromosomal structure of the reorganization (reviewed by Pellestor et al [15]). Based on this last classification criterion, CCR can be divided into three-way rearrangements (when three chromosomes suffer one break each and interchange the distal segments), exceptional CCR (when more than one breakpoint per chromosome is present), and double two-way translocations (involving two or three independent translocations in the same carrier).…”

Section: Introductionmentioning

confidence: 99%

Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier

Godo

Blanco

Vidal

et al. 2013

J Assist Reprod Genet

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Purpose To find out the meiotic segregation behaviour of the t(1;8;2)(q42;p21;p15), to evaluate the occurrence of interchromosomal effects, and to determine whether there is an accumulation of unbalanced products in aneuploid/diploid gametes. Methods A sequential FISH protocol based on two successive hybridization rounds over the same spermatozoa was performed to determine the segregation outcome of the rearranged chromosomes. The presence of numerical abnormalities for 13, 18, 21, X and Y was also evaluated by sperm FISH. Those aneuploid/diploid gametes were subsequently relocalized and analyzed for their segregation content through additional hybridization rounds. Results The segregation pattern observed reported a very low production of normal/balanced gametes (11.7 %). Significant increased frequencies of diploidies and disomies for chromosomes X/Y and 18 were detected (p <0.001). Aneuploid and diploid spermatozoa displayed significant increases of 5:1, 6:0 and other unexpected disjunction modes (p <0.001).Conclusions The strategy developed in this study is a reliable new approach to establish the full segregation pattern of complex chromosome rearrangements (CCR). Results corroborate the low number of normal/balanced spermatozoa produced by CCR carriers and support previous findings regarding an altered segregation pattern in gametes with numerical abnormalities. Altogether this confirms the importance of PGD as a tool to prevent the transmission of chromosomal abnormalities to the offspring in CCR patients.

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Complex chromosomal rearrangements: origin and meiotic behavior

Abstract: Despite the increasing understanding of the mechanisms involved in their genesis, CCRs arise as unique, complex events for which the genetic and reproductive counseling of carriers remains a challenge.

Cited by 163 publications

References 186 publications

Occurrence of Chromosomal Alterations in Recurrent Spontaneous Abortion Couples: A Case-Only Study from Kashmir, North India

Occurrence of Chromosomal Alterations in Recurrent Spontaneous Abortion Couples: A Case-Only Study from Kashmir, North India

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

Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier

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