FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male Ewa Wiland, Alexander.

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FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male Ewa Wiland, Alexander N. Yatsenko, Archana Kishore, Halina Stanczak, Agata Zdarta, Marcin Ligaj, Marta Olszewska, Jan Karol Wolski, Maciej Kurpisz Reproductive BioMedicine Online Volume 31, Issue 2, Pages 217-224 (August 2015) DOI: 10.1016/j.rbmo.2015.04.014 Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Cross-section of seminiferous tubules obtained from the testis biopsy of the azoospermic carrier of der(Y)(q11.221;p11.31). (A) Inhibited spermatogenesis at spermatocyte level and tubular hyalinization of lamina propria is visible. (B) In some tubules singular spermatozoa may appear (arrow). Scale bar = 20 µm (staining according to PAS method). Reproductive BioMedicine Online 2015 31, 217-224DOI: (10.1016/j.rbmo.2015.04.014) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 (A) G-bands on normal Y chromosome from control, fertile man. (B) G-bands on der(Y) chromosome of the azoospermic patient identified the duplication of the region q12-q11.2 and inverted translocation of this duplicated region to Ypter. (C) Scheme of normal Y chromosome. The arrows indicate the break points. (D) Scheme of der(Y)(q11.221;p11.31) showing the duplication of the region qter→q11.222::p11.31→qter and inverted translocation to p11.31 with deletion of PAR1 region. (E) The DAPI image of der(Y) using Yq12 (DYZ3; green) and SHOX (gene specific; red) probes. Two green signals of Yq12 probe and one regularly red signal of SHOX probe showed the duplication of Yq12 region without the deletion of SHOX gene on Yp. (F) The DAPI image of der(Y) using Yq12 (DYZ3; green) and SRY (gene specific; red) probes. Two green signals of Yq12 probe and one regularly red signal of SRY probe showed the duplication of Yq12 region without the deletion of SRY gene on Yp. (G) The DAPI image of der(Y) using Y centromere (DYZ1; red) and Yq (subtelomere; green) probes. The der(Y) contains one regularly red centromere signal and there are visible two green signals because Y qter sequence was duplicated and translocated to Yp arm. (H) mBAND FISH signals (false colours) showed isomonocentric structure of der(Y). Multicolour-labelled profiles were obtained using XCyte Y mBAND probe kit (MetaSystems). DAPI = 4(,6-diamidino-2-phenylindole); FISH = fluorescence in-situ hybridization. Reproductive BioMedicine Online 2015 31, 217-224DOI: (10.1016/j.rbmo.2015.04.014) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 3 Graphical display of structural rearrangement detected by aCGH on Y chromosome in presented case of der(Y))(q11.221;p11.31) azoospermic carrier. Probes with negative log ratio coloured as red (deleted 104,062–266,388, size = 162,327bp; 44 probes) and with positive log ratio coloured as navy blue (duplicated 14,448,863–59,288,511, size = 44,839,649bp; 1,045 probes) are encircled. The grey area presents the region which was duplicated and translocated to Yp11.31. aCGH = array comparative genomic hybridization. Reproductive BioMedicine Online 2015 31, 217-224DOI: (10.1016/j.rbmo.2015.04.014) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 4 The model of an incorrect reparation of the breaks in homologous chromatids of chromosome Y that led to the creation of the two rearranged chromatids which segregated to two different spermatids after second meiotic division in the presented case of der(Y)(q11.221;p11.31) azoospermic carrier. Reproductive BioMedicine Online 2015 31, 217-224DOI: (10.1016/j.rbmo.2015.04.014) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions