Aneuploid and unbalanced sperm in two translocation carriers: evaluation of the genetic risk

Oliver-Bonet, María; Navarro, J.; Carrera, Marta; Egozcue, J.; Benet, J.

doi:10.1093/molehr/8.10.958

Cited by 50 publications

(27 citation statements)

References 34 publications

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“…Although some studies give support to this phenomenon in Robertsonian translocations (3,18,19), as well as in reciprocal translocations (20)(21)(22), others have not detected its presence (23)(24)(25)(26). Our study shows that aneuploidies affecting chromosomes not related to the translocation are more common in Robertsonian translocation cases than in reciprocal ones, whereas the proportion of imbalances resulting from the translocation's segregations are higher in reciprocal than in Robertsonian translocation cases.…”

Section: Abnormalities In Chromosomes Non-related To the Translocationsmentioning

confidence: 42%

Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization

Rius

Obradors²,

Daina

et al. 2011

Fertility and Sterility

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Section: Abnormalities In Chromosomes Non-related To the Translocationsmentioning

confidence: 42%

Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization

Rius

Obradors²,

Daina

et al. 2011

Fertility and Sterility

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“…1) (Armstrong and Hultén, 1998). Nevertheless, when frequencies of each segregation type are considered, the effect of interstitial recombination can be overlooked, since the randomness of this event should compensate for this recombination (Oliver-Bonet et al, 2002).…”

Section: Reciprocal Translocation Segregation Studies By Human-hamstementioning

confidence: 99%

Segregation of chromosomes in sperm of reciprocal translocation carriers: a review

Benet

Oliver-Bonet

Cifuentes

et al. 2005

Cytogenet Genome Res

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104

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Reciprocal translocations, the most frequent structural aberration in humans, are mainly transmitted by one of the parents. In order to analyze the chromosomal content of the spermatozoa from carriers of chromosomal reorganizations, two methods have been used, karyotyping of sperm chromosomes by the human-hamster system and fluorescence in situ hybridization (FISH) in decondensed sperm nuclei. In this work, we review 92 sperm chromosome segregation studies from 85 different reciprocal translocation carriers, including a triple translocation carrier. Using the human-hamster method, a total of 5,818 spermatozoa from 44 reciprocal translocation carriers have been analyzed, 43 of them carrying a single reciprocal translocation and one was a carrier of a double reciprocal translocation. A segregation analysis in a carrier of a t(2;22;11) has been also reported. Carrying out FISH in sperm nuclei, a total of 237,042 spermatozoa from 46 reciprocal translocation carriers have been analyzed. Six of these were also analyzed by the human-hamster system. Taking into account both methods, a total of 76 different reciprocal translocations have been studied. In 74 of these 76 translocations, the reorganization occurs between autosomes, and in the other two, the Y chromosome is involved. Although along general lines, there are similarities between the results obtained by the two methods of analysis, variations are observed when the distribution of the different types of segregations that produce imbalances is compared. As a general rule reciprocal translocation carriers produce more unbalanced sperm than normal or balanced sperm. The results reported also corroborate that the proportion of unbalanced forms depends on the characteristics of the reorganization and that it varies widely. Thus the importance of performing a detailed meiotic behavior analysis for each particular translocation in order to obtain enough information to give adequate genetic counseling is stressed. Aspects as to the possible overestimation of 3:1 segregations or the presence of interchromosomal effects still need to be elucidated.

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“…When the genetic risk is evaluated the importance of the existence of an ICE is the undesirable consequences of nondisjunction more than its frequency, because nondisjunction can lead to the production of spermatozoa with viable aneuploidies which could generate viable abnormal embryos (Oliver-Bonet et al 2002). In the present study, 115 (91.3%) abnormal embryos, 28 of them (24.3%) altered only for chromosomes involved in translocations, 66 (57.4%) altered for chromosomes involved and not involved in translocations and 10 (8.7%) altered only for chromosomes not involved in translocations were found (Table 7).…”

Section: As In Reciprocal Translocationsmentioning

confidence: 99%

The importance of aneuploidy screening in reciprocal translocation carriers

Pujol

Benet²,

Staessen³

et al. 2006

Reproduction

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The purpose of this study is to investigate the aneuploidy rate and the mosaicism of chromosomes not involved in reciprocal translocations. Aneuploidy screening (AS) (13, 16, 18, 21 and 22) was performed as a re-analysis on fixed blastomeres from 126 embryos already analysed in preimplantation genetic diagnosis (PGD) cycles of eight female and five male reciprocal translocation carriers who had not achieved a pregnancy. A successful diagnosis for AS was achieved in 91.3% of embryos; 30.9% were euploid and 60.3% were aneuploid for the five chromosomes analysed. Of the embryos, 8.7% were euploid for AS and normal-balanced for the translocation and 22.2% were euploid for AS but unbalanced for the translocation; 8% of the embryos were aneuploid for AS but normal-balanced for the translocation and 52.4% were aneuploid for AS and also unbalanced for the translocation. At least 58.7% of the embryos were mosaic regarding mosaicism for the chromosomes involved and not involved in the translocations. Six of the 16 embryos transferred in the PGD cycles were aneuploid for the AS study; four of them were also mosaics. AS should be performed in reciprocal translocation carriers after segregation analysis in PGD.

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Aneuploid and unbalanced sperm in two translocation carriers: evaluation of the genetic risk

Cited by 50 publications

References 34 publications

Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization

Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization

Segregation of chromosomes in sperm of reciprocal translocation carriers: a review

The importance of aneuploidy screening in reciprocal translocation carriers

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