Case report: elevated sperm aneuploidy levels in an infertile Robertsonian translocation t(21;21) carrier with possible interchromosomal effect

Rogenhofer, Nina; Dürl, Stephanie; Ochsenkühn, Robert; Neusser, Michaela; Aichinger, Eric; Thaler, Christian J.; Müller, Stefan

doi:10.1007/s10815-012-9720-3

Cited by 14 publications

(5 citation statements)

References 28 publications

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“…Previously published studies mainly analysed ICE in sperm and embryos. Although some studies showed that ICE exists in the sperm of reciprocal translocation carriers (Anton et al , 2008; Vozdova et al , 2011) and Robertsonian translocation carriers (Anton et al , 2010, 2011; Alfarawati et al , 2011; Fiorentino et al , 2011; Treff et al , 2011; Rogenhofer et al , 2012; Kovaleva, 2013; Piomboni et al , 2014), others proposed that ICE is not present or it can be neglected since it is to a small extend (Martin, 1988; Syme & Martin, 1992; Van Hummelen et al , 1997; Blanco et al , 1998; Munne et al , 2005). Kovaleva (2013) reported that although an increased incidence of trisomy 21 is present in balanced reciprocal translocation and inversion carriers, this may not be evidence of ICE (Kovaleva, 2013).…”

Section: Discussionmentioning

confidence: 99%

Is the interchromosomal effect present in embryos derived from Robertsonian and reciprocal translocation carriers particularly focusing on chromosome 10 rearrangements?

Tulay

Gültomruk²,

Fındıklı³

et al. 2014

Zygote

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The aim of this study was to analyse the possible occurrence of the interchromosomal effect (ICE) in human preimplantation embryos obtained from Robertsonian and reciprocal translocation carriers focusing on ones with chromosome 10 rearrangements who were undergoing preimplantation genetic diagnosis (PGD) and to investigate whether offering aneuploidy screening would be beneficial to these patients. Cleavage stage embryos from translocation carriers undergoing PGD were biopsied. Multicolour fluorescence in situ hybridisation for the chromosomes involved in the translocation in addition to nine more chromosomes (13, 15, 16, 17, 18, 21, 22, X and Y) was used in the analysis. The control group involved embryos obtained from age-matched patients undergoing preimplantation genetic screening (PGS). Cumulative aneuploidy rate in embryos derived from both Robertsonian and reciprocal translocation carriers was found to be similar with the control group. Therefore no ICE was observed in cleavage stage embryos obtained from these carriers. More than half of the embryos with chromosome 10 rearrangements had aneuploidy for which an increased aneuploidy rate was more apparent in male carriers. Thus, it is possible that there is a risk of ICE in reciprocal carriers with chromosome 10 rearrangements. This study showed that there is no ICE in embryos derived from Robertsonian and reciprocal translocation carriers. However high rates of aneuploidy in structurally normal chromosomes were detected in embryos derived from these carriers and thus aneuploidy screening in addition to PGD may increase the pregnancy rates of these patients.

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Section: Discussionmentioning

confidence: 99%

Is the interchromosomal effect present in embryos derived from Robertsonian and reciprocal translocation carriers particularly focusing on chromosome 10 rearrangements?

Tulay

Gültomruk²,

Fındıklı³

et al. 2014

Zygote

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“…Among them, 66 cases correspond to a t(13;14) reorganization (Anton et al, 2004;Brugnon et al, 2010;Chen et al, 2007;Escudero et al, 2000;Ferfouri et al, 2011;Frydman et al, 2001;Mahjoub et al, 2011;Morel et al, 2001;Nishikawa et al, 2007;Ogawa et al, 2000;Ogur et al, 2006;Pylyp et al, 2013;Roux et al, 2005) and 22 cases to a t(14;21) reorganization (Anton et al, 2010;Brugnon et al, 2010;Ferfouri et al, 2011;Honda et al, 2000;Nishikawa et al, 2007;Pylyp et al, 2013;Rousseaux et al, 1995). The remaining studies involve other rare combinations of acrocentric chromosomes (Acar et al, 2002;Anahory et al, 2005;Anton et al, 2010;Bernicot et al, 2012;Brugnon et al, 2010;Chen et al, 2007;Cinar et al, 2011;Ferfouri et al, 2011;Moradkhani et al, 2006;Nishikawa et al, 2007;Pylyp et al, 2013;Rogenhofer et al, 2012). As reviewed by Anton et al (2010), the compiled data indicate that Robertsonian translocation carriers display a similar distribution of segregation products, irrespective of the chromosomes involved, with the main segregation outcome being alternate (84.5% ± 6.3), followed by adjacent (14.6% ± 5.8) segregation, and the rare occurrence of 3:0 disjunction (0.6% ± 0.7).…”

Section: Introductionmentioning

confidence: 99%

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

Godo

Blanco

Vidal

et al. 2015

Reproductive BioMedicine Online

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“…Referring to a study performed in 2010, it was found that female carriers have a higher risk of having unbalanced offspring compared to male carriers ( 12 ). On the other hand, it has been confirmed that aneuploidy resulting from RobT is more prevalent in sperm, and it is predictable to observe infertility, miscarriages, and anomalies as a consequence ( 13 ).…”

Section: Discussionmentioning

confidence: 98%

Homozygosity for Robertsonian Translocation (14q;15q) in a Newborn with a Familial History of Recurrent Abortion and Newborns Affected by Hepatosplenomegaly: A Case Report

Sahraeean,

Jebelli,

Shahbazi

et al. 2023

JRI

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Background: Robertsonian translocations (RobTs) are one of the major chromosomal abnormalities which lead to spontaneous abortion. They occur in the human population at the rate of 1 in 1000 live infants. In this paper, a family carrying one of the rare RobTs was presented and some features of all kinds of RobTs were reviewed. Case Presentation: A couple with a history of three miscarriages was referred to Omid Health Clinic of Hamadan, Iran. The karyotype of the woman was 45,XX, rob(14;15)(q10;q10) and she exhibited phenotypically good health. Karyotype analysis of proband’s uncle and his wife with a consanguineous marriage revealed that they were both carriers of rob(14;15). This couple had six offspring, three of which were dead, and the other three were alive with a normal phenotype. Besides, this couple had an unborn child, with a karyotype of 44,XX,rob(14;15)(q10;q10). Conclusion: These observations showed that genetic counseling, pedigree, and chromosomal analysis are needed to discover the cause of spontaneous abortion, stillbirth, congenital anomalies, sudden infant death syndrome (SIDS), etc. Moreover, families carrying RobTs would be offered prenatal diagnosis screening tests and, if necessary, assisted reproductive technology methods to assist with preimplantation genetic test for structural rearrangement (PGT-SR) reproduction.

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Case report: elevated sperm aneuploidy levels in an infertile Robertsonian translocation t(21;21) carrier with possible interchromosomal effect

Cited by 14 publications

References 28 publications

Is the interchromosomal effect present in embryos derived from Robertsonian and reciprocal translocation carriers particularly focusing on chromosome 10 rearrangements?

Is the interchromosomal effect present in embryos derived from Robertsonian and reciprocal translocation carriers particularly focusing on chromosome 10 rearrangements?

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

Homozygosity for Robertsonian Translocation (14q;15q) in a Newborn with a Familial History of Recurrent Abortion and Newborns Affected by Hepatosplenomegaly: A Case Report

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