Comprehensive meiotic segregation analysis of a 4-breakpoint t(1;3;6) complex chromosome rearrangement using single sperm array comparative genomic hybridization and FISH  Miroslav Hornak, Miluse Vozdova, Petra Musilova, Petra Prinosilova, Eva Oracova, Vlasta Linkova, Katerina Vesela, Jiri Rubes  Reproductive BioMedicine Online  Volume 29, Issue 4, Pages 499-508 (October 2014) DOI: 10.1016/j.rbmo.2014.06.014 Copyright © 2014 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 A metaphase spread and hexavalent configuration. (a) A metaphase spread from the patient hybridized with whole chromosome painting probes for chromosomes 1 (green), 3 (red), and 6 (blue); (b) a putative hexavalent configuration during chromosome synapsis at pachytene-stage of meiotic division of the 4-breakpoint 46,XY,t(1;3;6) complex chromosome rearrangement carrier. Reproductive BioMedicine Online 2014 29, 499-508DOI: (10.1016/j.rbmo.2014.06.014) Copyright © 2014 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Single spermatozoa array CGH analysis of the 4-breakpoint 46,XY,t(1;3;6) complex chromosome rearrangement carrier. A gain of the chromosome or its part is indicated by shifting above the green horizontal line and a loss of the chromosome or its part by shifting below the red horizontal line. (a) A normal or balanced sperm bearing X chromosome (gain of X, loss of Y chromosome compared with 46,XY reference DNA); (b) a normal or balanced sperm bearing Y chromosome (loss of X, gain of Y chromosome compared with 46,XY reference DNA); (c) the unbalanced sperm [23,X,+der(1),−6] derived from 3:3 segregation; (d) the unbalanced sperm [22,Y,−1,der(3),der(6)] derived from 4:2 segregation; (e) the unbalanced sperm [23,X,−3,+der(6)] derived from 3:3 segregation, notice the small gain in chr. 1 (arrow) due to the presence of normal chromosome 1 and der(6) with insertion of a short region of chr. 1; (f) the unbalanced sperm [23,X,der(1),der(3),−6,+8] derived from 4:2 segregation, notice the small loss in chr. 1 and the additional gain of chr. 8 (arrows). The loss in chr. 1 is ascribed to the presence of der(1) and der(3) chromosomes composed of large terminal parts of chr. 1 and absence of der(6) with insertion of a short region of chr. 1; (g) the unbalanced sperm [23,X,−1,+der(3),der(6)] derived from 3:3 segregation, notice additional structural abnormality in chr. 7 (arrow); (h) the unbalanced sperm [24,X,der(3),+der(3)] derived from 4:2 segregation and a crossing-over between normal and derivative chr. 3, notice three copies of part of chr. 1 (arrow). Reproductive BioMedicine Online 2014 29, 499-508DOI: (10.1016/j.rbmo.2014.06.014) Copyright © 2014 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Single spermatozoa array CGH analysis of the 4-breakpoint 46,XY,t(1;3;6) complex chromosome rearrangement carrier. A gain of the chromosome or its part is indicated by shifting above the green horizontal line and a loss of the chromosome or its part by shifting below the red horizontal line. (a) A normal or balanced sperm bearing X chromosome (gain of X, loss of Y chromosome compared with 46,XY reference DNA); (b) a normal or balanced sperm bearing Y chromosome (loss of X, gain of Y chromosome compared with 46,XY reference DNA); (c) the unbalanced sperm [23,X,+der(1),−6] derived from 3:3 segregation; (d) the unbalanced sperm [22,Y,−1,der(3),der(6)] derived from 4:2 segregation; (e) the unbalanced sperm [23,X,−3,+der(6)] derived from 3:3 segregation, notice the small gain in chr. 1 (arrow) due to the presence of normal chromosome 1 and der(6) with insertion of a short region of chr. 1; (f) the unbalanced sperm [23,X,der(1),der(3),−6,+8] derived from 4:2 segregation, notice the small loss in chr. 1 and the additional gain of chr. 8 (arrows). The loss in chr. 1 is ascribed to the presence of der(1) and der(3) chromosomes composed of large terminal parts of chr. 1 and absence of der(6) with insertion of a short region of chr. 1; (g) the unbalanced sperm [23,X,−1,+der(3),der(6)] derived from 3:3 segregation, notice additional structural abnormality in chr. 7 (arrow); (h) the unbalanced sperm [24,X,der(3),+der(3)] derived from 4:2 segregation and a crossing-over between normal and derivative chr. 3, notice three copies of part of chr. 1 (arrow). Reproductive BioMedicine Online 2014 29, 499-508DOI: (10.1016/j.rbmo.2014.06.014) Copyright © 2014 Reproductive Healthcare Ltd. Terms and Conditions