Preimplantation genetic diagnosis (PGD) for extremes—successful birth after PGD for a consanguineous couple carrying an identical balanced reciprocal translocation  Cagri Beyazyurek, M.S., Cumhur Gokhan Ekmekci, M.D., Ph.D., Yaman Sağlam, M.D., Ph.D., Cigdem Cinar, M.S., Semra Kahraman, M.D., Ph.D.  Fertility and Sterility  Volume 93, Issue 7, Pages 2413.e1-2413.e5 (May 2010) DOI: 10.1016/j.fertnstert.2009.12.032 Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Pedigree of the family. The numbers inside the circles and squares indicate the number of children born with the same gender. I.1: 46,XY,t(1;16)(q12;q11.2)mat,t(1;16)(q12;q11.2)pat. I.2: 46,XY,t(1;16)(q12;q11.2)mat,t(1;16)(q12;q11.2)pat. II.1: 46,XX,t(1;16)(q12;q11.2). II.2: 46,XY,t(1;16)(q12;q11.2). Fertility and Sterility 2010 93, 2413.e1-2413.e5DOI: (10.1016/j.fertnstert.2009.12.032) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Results of cytogenetic studies. Karyotype of (A) the mother 46,XX,t(1;16)(q12;q11.2) and (B) the father 46,XY,t(1;16)(q12;q11.2). FISH analysis on peripheral blood metaphase plaques of (C) mother and (D) father. (E) Karyotype of monozygotic twin babies: 46,XY,t(1;16)(q12;q11.2)mat,t(1;16)(q12;q11.2)pat. (F) FISH analysis on peripheral blood metaphase plaques of the twins. Probes: Telomeric 16p spectrum green (SG) (TelVysion 16p, D16S3400, GDB:6244659; Vysis, Abbott Inc.), Telomeric 16q spectrum orange (SO) (TelVysion 16q, GenBank Z23646; Vysis, Abbott Inc.), Centromeric probe (CEP) 1 (SO) (Satellite II/III, 1q12; Vysis, Abbott Inc.), and CEP 16 Spectrum aqua (SA) (D16Z3; Vysis, Abbott Inc.). Fertility and Sterility 2010 93, 2413.e1-2413.e5DOI: (10.1016/j.fertnstert.2009.12.032) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

Figure 3 FISH images of three rounds of hybridization of the transferred embryo. (A) In the first round, two green (Telomeric 16p) and two orange signals (Telomeric 16q) were observed. (B) In the second round, two green (Telomeric 1p) and two orange (Telomeric 1q) signals were observed. (C) Third round was inconclusive: apart from two fused green and orange signals (Centromeric 1 and Centromeric 16), in the middle of the nucleus there is a signal overlap which made the interpretation difficult. Probes: Telomeric 16p spectrum green (SG) (TelVysion 16p, D16S3400, GDB:6244659; Vysis, Abbott Inc.), Telomeric 16q spectrum orange (SO) (TelVysion 16q, GenBank Z23646; Vysis, Abbott Inc.), Centromeric probe (CEP) 1 (SO) (Satellite II/III, 1q12; Vysis, Abbott Inc.), and CEP 16 Spectrum aqua (SA) (D16Z3; Vysis, Abbott Inc.). Fertility and Sterility 2010 93, 2413.e1-2413.e5DOI: (10.1016/j.fertnstert.2009.12.032) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions