Complex chromosomal rearrangements in infertile males: complexity of rearrangement affects spermatogenesis Ji Won Kim, M.D., Eun Mi Chang, M.D., Seung-Hun.

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Complex chromosomal rearrangements in infertile males: complexity of rearrangement affects spermatogenesis Ji Won Kim, M.D., Eun Mi Chang, M.D., Seung-Hun Song, M.D., Sang Hee Park, M.Sc., Tae Ki Yoon, M.D., Ph.D., Sung Han Shim, Ph.D. Fertility and Sterility Volume 95, Issue 1, Pages 349-352.e5 (January 2011) DOI: 10.1016/j.fertnstert.2010.08.014 Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Distributions of breakpoints identified in males with CCR and fertility problems. Arrowheads (left side of the ideogram) indicate breakpoints identified in this study, and arrows (right side of ideogram) indicate breakpoints reported in the literature. Fertility and Sterility 2011 95, 349-352.e5DOI: (10.1016/j.fertnstert.2010.08.014) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Histological examination of testicular biopsies from azoospermic males show either Sertoli cells only (A, patient 6) or maturation arrest at the stage of early spermatids (B, patient 10). The other two males with azoospermia (patients 7 and 8) showed the same histological findings as in panel B. Fertility and Sterility 2011 95, 349-352.e5DOI: (10.1016/j.fertnstert.2010.08.014) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Cytogenetic analyses of patient 7 Cytogenetic analyses of patient 7. (A) Partial ideogram from GTG-banding. Derivative chromosomes result from multiple translocations. (B) M-FISH clarification of the derivative chromosomes. (C) Confirmation of the M-FISH results by routine FISH analyses using whole chromosome painting probes. On the basis of these results, the karyotype of this patient was identified as 46,XY,der(1)(9qter→9q22::1p32→1qter),der(4)(1pter→1p32::13q32→13q14::4p14→4pter),der(9)(9pter→9q22::4p14→4pter),der(13)(13pter→13q14::13q32→13qter). Fertility and Sterility 2011 95, 349-352.e5DOI: (10.1016/j.fertnstert.2010.08.014) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Cytogenetic analyses of patient 10 Cytogenetic analyses of patient 10. (A) Partial ideogram from GTG-banding. (B) M-FISH results. (C) 16q24-16qter region on der(6) chromosome identified by the TelVysion 16q probe was not fully identified by GTG-banding and M-FISH. On the basis of these results, the karyotype of this patient was identified as 46,XY,der(3)(3pter→3p23::3q25.3→3p11.1::6q27→6qter),der(6)(6pter→6q27::16q24→16qter),der(12)(12pter→12q24.3::3q25.3→3qter),der(16)(16pter→16q24::3p11.1→3p23::12q24.3→12qter). Fertility and Sterility 2011 95, 349-352.e5DOI: (10.1016/j.fertnstert.2010.08.014) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions