A CASE OF PREIMPLANTATION GENETIC TESTING FOR A COUPLE IN WHICH BOTH SPOUSES ARE CARRIERS OF AUTOSOMAL RECIPROCAL TRANSLOCATIONS
Abstract and keywords
Abstract (English):
The paper presents the results of the preimplantation genetic testing for a couple in which both spouses are carriers of balanced autosomal translocations. The chromosome segregation pattern and individual characteristics of quadrivalents for both rearrangements were determined, and the risk of reproductive problems in a offspring who inherited a maternal translocation was assessed.

Keywords:
autosomal reciprocal translocations, segregation pattern, terminal breakpoints, quadrivalent asymmetry, centric and translocated segments
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References

1. Neu RL, Kousseff BG, Hardy DE, Essig YP, Miller KL, Jervis GA, Tedesco TA. Trisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents. J Med Genet 1988;9:631-633. Doi:https://doi.org/10.1136/jmg.25.9.631.

2. Ye Y, Quian Y, Xu C, et al. Meiotic segregation analysis of embryos from reciprocal translocation carriers in PGD cycles. Reprod Biomed Online 2012;24:83-90. doi:https://doi.org/10.1016/j.rbmo.2011.08.012.

3. Zhang Y, Zhu S, Wu J, et al. Quadrivalent asymmetry in reciprocal translocation carriers predicts meiotic segregation patterns in cleavage stage embryos. Reprod Biomed Online 2014;29:490-498. doi:https://doi.org/10.1016/j.rbmo.2014.06.010.

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