Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring Caroline Mackie Ogilvie, D.Phil.,

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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.e11-1529.e14 (September 2010) DOI: 10.1016/j.fertnstert.2010.02.026 Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

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 2010 94, 1529.e11-1529.e14DOI: (10.1016/j.fertnstert.2010.02.026) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

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 2010 94, 1529.e11-1529.e14DOI: (10.1016/j.fertnstert.2010.02.026) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

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 2010 94, 1529.e11-1529.e14DOI: (10.1016/j.fertnstert.2010.02.026) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

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 2010 94, 1529.e11-1529.e14DOI: (10.1016/j.fertnstert.2010.02.026) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions