Hostname: page-component-78c5997874-lj6df Total loading time: 0 Render date: 2024-11-16T15:32:52.007Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Published online by Cambridge University Press:  26 November 2014

Pinar Tulay ,
Meral Gultomruk ,
Necati Findikli ,
Erbil Yagmur  and
Mustafa Bahceci
Pinar Tulay*
Affiliation:
Near East University, Faculty of Medicine, Department of Medical Genetics, East Avenue, PO Box: 922022 Yakin Dogu Bulvari, Nicosia, Cyprus
Meral Gultomruk
Affiliation:
Bahceci Fulya Assisted Reproductive Technology Centre, Hakkı Yeten St, 11/3, 34365 Istanbul, Turkey.
Necati Findikli
Affiliation:
Bahceci Fulya Assisted Reproductive Technology Centre, Hakkı Yeten St, 11/3, 34365 Istanbul, Turkey.
Erbil Yagmur
Affiliation:
Bahceci Fulya Assisted Reproductive Technology Centre, Hakkı Yeten St, 11/3, 34365 Istanbul, Turkey.
Mustafa Bahceci
Affiliation:
Bahceci Fulya Assisted Reproductive Technology Centre, Hakkı Yeten St, 11/3, 34365 Istanbul, Turkey.
*
All correspondence to: Pinar Tulay. Near East University, Faculty of Medicine, Department of Medical Genetics, East Avenue, PO Box: 922022 Yakin Dogu Bulvari, Nicosia, Cyprus. Tel: 0090 212 310 3138. Fax: 0090 212 310 3190. e-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Summary

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.

Keywords

PGDFISHHuman preimplantation embryoInterchromosomal effectTranslocation
Type
Research Article
Information
Zygote , Volume 23 , Issue 6 , December 2015 , pp. 908 - 915
Copyright
Copyright © Cambridge University Press 2014 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Alfarawati, S., Fragouli, E., Colls, P. & Wells, D. (2011). First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum. Reprod. 26, 1560–74.Google Scholar
Alfarawati, S., Fragouli, E., Colls, P. & Wells, D. (2012). Embryos of Robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development. PLoS Genet. 8, e1003025.Google Scholar
Anton, E., Vidal, F. & Blanco, J. (2008). Reciprocal translocations: tracing their meiotic behavior. Genet. Med. 10, 730–8.Google Scholar
Anton, E., Blanco, J. & Vidal, F. (2010). Meiotic behavior of three D;G Robertsonian translocations: segregation and interchromosomal effect. J. Hum. Genet. 55, 541–5.Google Scholar
Anton, E., Vidal, F. & Blanco, J. (2011). Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers. Syst. Biol. Reprod. Med. 57, 268–78.Google Scholar
Baccetti, B., Bruni, E., Collodel, G., Gambera, L., Moretti, E., Marzella, R. & Piomboni, P. (2003). 10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: case report. Hum. Reprod. 18, 2302–8.Google Scholar
Blanco, J., Egozcue, J., Clusellas, N. & Vidal, F. (1998). FISH on sperm heads allows the analysis of chromosome segregation and interchromosomal effects in carriers of structural rearrangements: results in a translocation carrier, t(5;8)(q33;q13). Cytogenet. Cell. Genet. 83, 275–80.Google Scholar
Estop, A.M., Cieply, K., Munne, S., Surti, U., Wakim, A. & Feingold, E. (2000). Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies. Hum. Genet. 106, 517–24.Google Scholar
Faraut, T., Mermet, M.A., Demongeot, J. & Cohen, O. (2000). Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. Cytogenet. Cell. Genet. 88, 15–21.CrossRefGoogle ScholarPubMed
Fiorentino, F., Spizzichino, L., Bono, S., Biricik, A., Kokkali, G., Rienzi, L., Ubaldi, F.M., Iammarrone, E., Gordon, A. & Pantos, K. (2011). PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum. Reprod. 26, 1925–35.Google Scholar
Ford, C.E. & Clegg, H.M. (1969). Reciprocal Translocations. Br. Med. Bull. 25, 110–4.Google Scholar
Gianaroli, L., Magli, M.C., Ferraretti, A.P., Munne, S., Balicchia, B., Escudero, T. & Crippa, A. (2002). Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum. Reprod. 17, 3201–7.Google Scholar
Guichaoua, M.R., Quack, B., Speed, R.M., Noel, B., Chandley, A.C. & Luciani, J.M. (1990). Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. Hum. Genet. 86, 162–6.CrossRefGoogle Scholar
Jacobs, P.A., Melville, M., Ratcliffe, S., Keay, A.J. & Syme, J. (1974). A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 37, 359–76.Google Scholar
Kovaleva, N.V. (2013). [Increased risk of trisomy 21 in offspring of carriers of balanced non-contributing autosomal rearrangements is not explained by interchromosomal effect]. Genetika 49, 259–68.Google Scholar
Lejeune, J. (1963). Autosomal disorders. Pediatrics 32, 326–37.CrossRefGoogle ScholarPubMed
Martin, R.H. (1988). Cytogenetic analysis of sperm from a male heterozygous for a 13;14 Robertsonian translocation. Hum. Genet. 80, 357–61.CrossRefGoogle Scholar
Munne, S., Escudero, T., Fischer, J., Chen, S., Hill, J., Stelling, J.R. & Estop, A. (2005). Negligible interchromosomal effect in embryos of Robertsonian translocation carriers. Reprod. Biomed. Online 10, 363–9.Google Scholar
Piomboni, P., Stendardi, A. & Gambera, L. (2014). Chromosomal aberrations and aneuploidies of spermatozoa. Adv. Exp. Med. Biol. 791, 27–52.Google Scholar
Rogenhofer, N., Durl, S., Ochsenkuhn, R., Neusser, M., Aichinger, E., Thaler, C.J. & Muller, S. (2012). Case report: elevated sperm aneuploidy levels in an infertile Robertsonian translocation t(21;21) carrier with possible interchromosomal effect. J. Assist. Reprod. Genet. 29, 343–6.Google Scholar
Rubio, C., Bellver, J., Rodrigo, L., Bosch, E., Mercader, A., Vidal, C., De Los Santos, M.J., Giles, J., Labarta, E., Domingo, J., Crespo, J., Remohi, J., Pellicer, A. & Simon, C. (2013). Preimplantation genetic screening using fluorescence in situ hybridization in patients with repetitive implantation failure and advanced maternal age: two randomized trials. Fertil. Steril. 99, 1400–7.Google Scholar
Scriven, P.N., Handyside, A.H. & Ogilvie, C.M. (1998). Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat. Diagn. 18, 1437–49.Google Scholar
Scriven, P.N., Flinter, F.A., Khalaf, Y., Lashwood, A. & Mackie Ogilvie, C. (2013). Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study. Eur. J. Hum. Genet. 21, 1035–41.Google Scholar
Simopoulou, M., Harper, J.C., Fragouli, E., Mantzouratou, A., Speyer, B.E., Serhal, P., Ranieri, D.M., Doshi, A., Henderson, J., Rodeck, C.H. & Delhanty, J.D. (2003). Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat. Diagn. 23, 652–62.Google Scholar
Syme, R.M. & Martin, R.H. (1992). Meiotic segregation of a 21;22 Robertsonian translocation. Hum. Reprod. 7, 825–9.Google Scholar
Treff, N.R., Tao, X., Schillings, W.J., Bergh, P.A., Scott, R.T. Jr. & Levy, B. (2011). Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Fertil. Steril. 96, e58–65.Google Scholar
Ulug, U., Turan, E., Tosun, S.B., Erden, H.F. & Bahceci, M. (2007). Comparison of preovulatory follicular concentrations of epidermal growth factor, insulin-like growth factor-I, and inhibins A and B in women undergoing assisted conception treatment with gonadotropin-releasing hormone (GnRH) agonists and GnRH antagonists. Fertil. Steril. 87, 995–8.CrossRefGoogle Scholar
Van Echten-Arends, J., Coonen, E., Reuters, B., Suijkerbuijk, R.F., Dul, E.C., Land, J.A. & Van Ravenswaaij-Arts, C.M. (2013). Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis. Hum. Reprod. 28, 3141–5.Google Scholar
Van Hummelen, P., Manchester, D., Lowe, X. & Wyrobek, A.J. (1997). Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm. Am. J. Hum. Genet. 61, 651–9.Google Scholar
Vozdova, M., Oracova, E., Musilova, P., Kasikova, K., Prinosilova, P., Gaillyova, R. & Rubes, J. (2011). Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families. Fertil. Steril. 96, e66–70.Google Scholar