Abnormal meiotic recombination with complex chromosomal rearrangement in an azoospermic man  Liu Wang, Furhan Iqbal, Guangyuan Li, Xiaohua Jiang, Ihtisham Bukhari, Hanwei Jiang, Qingling Yang, Liangwen Zhong, Yuanwei Zhang, Juan Hua, Howard J. Cooke, Qinghua Shi  Reproductive BioMedicine Online  Volume 30, Issue 6, Pages 651-658 (June 2015) DOI: 10.1016/j.rbmo.2015.02.015 Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Abnormal spermatogenesis and apoptotic germ cells in the testicular sections of the translocation carrier t(5;7;9;13). Haematoxylin and eosin stain analysis of testicular sections showed (A) normal histology and spermatogenesis in the control; (B) reduced germ cells in the translocation carrier's testis; (C) Tdt (terminal deoxynucleotidyl transferase)-mediated dUDP nick-end labelling assay of testicular sections revealed no apoptotic cells in control, but increased apoptotic cells in the translocation carrier's testis. Scale bar = 50 µm. Reproductive BioMedicine Online 2015 30, 651-658DOI: (10.1016/j.rbmo.2015.02.015) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Complex translocation t(5;7;9;13) in the patient. (A) This abnormality was found in all the 100 studied G-banded metaphase peripheral blood lymphocytes; (B) ideogram for GTG-banded chromosomes involved in the complex translocation; (C) images of a representative pachytene spermatocyte immunostained for CREST (blue), SYCP3 (red) and MLH1 (green); (D) fluorescence in-situ hybridization was applied to identify the centromeres of chromosome 5 (green), 9 (green), 7 (red) and 13 (red); (E) a schematic configuration of chromosomes involved in translocation from the cell shown in C and D displays incomplete synapsis between homologous chromosomes. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.) Reproductive BioMedicine Online 2015 30, 651-658DOI: (10.1016/j.rbmo.2015.02.015) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 3 Representative images of immunostained synaptonemal complexes in the translocation carrier t(5;7;9;13). Translocated chromosomes adopted an octavalent conformation during the prophase of first meiotic division. (A and B) Octavalents were found not associated (21%) and associated (79%) with the XY chromosomes in pachytene spermatocytes (C, D). SYCP3, Red; MLH1, Green; CREST, Blue. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.) Reproductive BioMedicine Online 2015 30, 651-658DOI: (10.1016/j.rbmo.2015.02.015) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 4 Meiotic progression was disturbed in the translocation carrier t(5;7;9;13). Representative spermatocyte spreads immunostained for SYCP3 (red), and CREST (blue) showed Leptotene (A), Zygotene (B) and Pachytene cells (C). An increase in zygotene and decrease in pachytene spermatocytes were observed in the translocation carrier compared with controls (D). n = the number of cells analysed; ***P < 0.001, chi-squared test. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.) Reproductive BioMedicine Online 2015 30, 651-658DOI: (10.1016/j.rbmo.2015.02.015) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions