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Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring Caroline Mackie Ogilvie, D.Phil., Sally Watson, M.Sc., Peter Braude, Ph.D., Susan Pickering, Ph.D., Paul N. Scriven, Ph.D. Fertility and Sterility Volume 94, Issue 4, Pages 1529.e e14 (September 2010) DOI: /j.fertnstert Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions
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Figure 1 Partial ideogram showing the translocation between the long arm of the Y chromosome and the long arm of chromosome 13. The arrow by the normal chromosome 13 indicates the position of the break point; this individual does not have a normal Y chromosome. Red, green, aqua, and white bands show the position and color of the fluorescence in situ hybridization probes used for preimplantation genetic diagnosis. Fertility and Sterility , 1529.e e14DOI: ( /j.fertnstert ) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions
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Figure 2 Possible viable outcomes of t(Y;13). (A) carrier male; (B) normal female; (C) carrier male with Klinefelter syndrome; (D) Turner syndrome female; (E) carrier male with trisomy 13 (Patau syndrome); (F) male with trisomy for the translocated segment of chromosome 13 and nullisomy for the translocated segment of the Y chromosome. Fertility and Sterility , 1529.e e14DOI: ( /j.fertnstert ) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions
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Figure 3 Fluorescence in situ hybridization of (A) metaphase spread and (B) interphase nucleus from the translocation carrier. Probes used: RB-1 (13q14, LSI 13, SpectrumGreen; Abbott); D13S1825 (13q34, TEL 13q, TexasRed; Cytocell); DXZ1 (Xcen alphasatellite, SpectrumAqua; Abbott); and DYZ1 (Yq12 satellite III, biotin [pseudocolored white]; Oncor). Fertility and Sterility , 1529.e e14DOI: ( /j.fertnstert ) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions
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Figure 4 Upper row shows the three embryos suitable for biopsy; lower row shows the interphase nuclei after fluorescence in situ hybridization. Fertility and Sterility , 1529.e e14DOI: ( /j.fertnstert ) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions
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