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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*
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: pintulay@gmail.com

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.

Type
Research Article
Copyright
Copyright © Cambridge University Press 2014 

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