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Published byRaimo Ari-Matti Järvenpää Modified over 5 years ago
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Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern? Fatma Ferfouri, Ph.D., Izabel Bernicot, Ph.D., Anouck Schneider, Pharm.D., Emmanuelle Haquet, Ph.D., Bernard Hédon, M.D., Tal Anahory, M.D., Ph.D. Fertility and Sterility Volume 105, Issue 4, Pages (April 2016) DOI: /j.fertnstert Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions
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Figure 1 Probes sets selected for preimplantation genetic diagnosis–fluorescence in situ hybridization on blastomere nucleus of 46,X,t(X;2)(q27;p15) and 46,X,t(X;22)(q28;q12.3) carriers. The images revealed (a and d) normal or balanced embryo, (b) blastomere nucleus displaying a Xq trisomy and 2p monosomy resulting from adjacent I segregation, (c) both 2p and Xq trisomy resulting from 3:1 segregation, (e) Xq trisomy or Xq disomy and 22p monosomy resulting from adjacent II segregation, and (f) 22 trisomy resulting from 3:1 segregation. Fertility and Sterility , DOI: ( /j.fertnstert ) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions
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Figure 2 Results of FISH PGD analysis. d, defrosted embryo; other abbreviations as in Figure 1. 1−4PGD attempt. Fertility and Sterility , DOI: ( /j.fertnstert ) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions
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Figure 2 Results of FISH PGD analysis. d, defrosted embryo; other abbreviations as in Figure 1. 1−4PGD attempt. Fertility and Sterility , DOI: ( /j.fertnstert ) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions
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Figure 3 (A) Potential viable embryos resulting from meiotic segregation of female balanced X-autosome translocation 46,X,t(X,A)(q27–q28;q) according to skewed X inactivation regarding X viability. Xm, maternal chromosome; Xp, paternal chromosome; Xi inactive X chromosome or X segment translocated on der(autosome); Xa, active X chromosome or X segment translocated on der(autosome). (B) Genetic counseling. Fertility and Sterility , DOI: ( /j.fertnstert ) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions
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