A rare Robertsonian translocation rob(14;22) carrier with azoospermia, meiotic defects, and testicular sperm aneuploidy

References

• Anton, E., Vidal, F. and Blanco, J. (2011) Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers. Syst Biol Reprod Med 57:268–278
   PubMed Web of Science ®Google Scholar
• Barlow, A.L. and Hultén, M.A. (1998) Crossing over analysis at pachytene in man. Eur J Hum Genet 6:350–358
   PubMed Web of Science ®Google Scholar
• Codina-Pascual, M., Oliver-Bonet, M., Navarro, J., Campillo, M., García, F., Egozcue, S., et al. (2005) Synapsis and meiotic recombination analyses: MLH1 focus in the XY pair as an indicator. Hum Reprod 20:2133–2139
   PubMed Web of Science ®Google Scholar
• Coonen, E., Dumoulin, J.C., Ramaekers, F.C. and Hopman, A.H. (1994) Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum Reprod 9:533–537
   PubMed Web of Science ®Google Scholar
• Escudero, T., Abdelhadi, I., Sandalinas, M. and Munné, S. (2003) Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. Fertil Steril 79:1528–1534
   PubMed Web of Science ®Google Scholar
• Egozcue, J., Sarrate, Z., Codina-Pascual, M., Egozcue, S., Oliver-Bonet, M., Blanco, J., et al. (2005) Meiotic abnormalities in infertile males. Cytogenet Genome Res 111:337–342
   PubMed Web of Science ®Google Scholar
• Gianaroli, L., Magli, M.C., Ferraretti, A.P., Munné, S., Balicchia, B., Escudero, T., et al. (2002) Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 17:3201–3207
   PubMed Web of Science ®Google Scholar
• Gianaroli, L., Magli, M.C., Cavallini, G., Crippa, A., Nadalini, M., Bernardini, L., et al. (2005) Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility. Hum Reprod 20:2140–2152
   PubMed Web of Science ®Google Scholar
• Hadziselimovic, F. (2006) Early successful orchidopexy does not prevent from developing azoospermia. Int Braz J Urol. 32:570–573
   PubMedGoogle Scholar
• Hadziselimovic, F., Hocht, B., Herzog, B. and Buser, M.W. (2007) Infertility in cryptorchidism is linked to the stage of germ cell development at orchidopexy. Horm Res 68:46–52
   PubMed Web of Science ®Google Scholar
• Kogo, H., Tsutsumi, M., Inagaki, H., Ohye, T., Kiyonari, H. and Kurahashi, H. (2012) HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Genes Cells 17:897–912
   PubMed Web of Science ®Google Scholar
• Manterola, M., Page, J., Vasco, C., Berríos, S., Parra, M.T., Viera, A., et al. (2009) A high incidence of meiotic silencing of unsynapsed chromatin is not associated with substantialpachytene loss in heterozygous male mice carrying multiple simple robertsonian translocations. PLoS Genet 5:e1000625
   PubMedGoogle Scholar
• Moradkhani, K., Puechberty, J., Bhatt, S., Vago, P., Janny, L., Lefort, G., et al. (2006) Meiotic segregation of rare Robertsonian translocations: sperm analysis of three t(14q;22q) cases. Hum Reprod 21:1166–1171
   PubMed Web of Science ®Google Scholar
• Munné, S. (2005) Analysis of chromosome segregation during preimplantation genetic diagnosis in both male and female translocation heterozygotes. Cytogenet Genome Res 111:305–309
   PubMed Web of Science ®Google Scholar
• Navarro, J., Vidal, F., Benet, J., Templado, C., Marina, S. and Egozcue, J. (1991) XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation. Hum Reprod 6:376–381
   PubMed Web of Science ®Google Scholar
• Platteau, P., Staessen, C., Michiels, A., Tournaye, H., Van Steirteghem, A., Liebaers, I., et al. (2004) Comparison of the aneuploidy frequency in embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men. Hum Reprod 19:1570–1574
   PubMed Web of Science ®Google Scholar
• Roux, C., Tripogney, C., Morel, F., Joanne, C., Fellmann, F., Clavequin, M.C., et al. (2005) Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res 111:291–296
   PubMed Web of Science ®Google Scholar
• Rubes, J., Vozdova, M., Oracova, E. and Perreault, S.D. (2005) Individual variation in the frequency of sperm aneuploidy in humans. Cytogenet Genome Res 111:229–236
   PubMed Web of Science ®Google Scholar
• Ruggeri, A., Dulcetti, F., Miozzo, M., Grati, F.R., Grimi, B., Bellato, S., et al. (2004) Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations. Prenat Diagn 24:997–1000
   PubMed Web of Science ®Google Scholar
• Sánchez-Castro, M., Jiménez-Macedo, A.R., Sandalinas, M. and Blanco, J. (2009) Prognostic value of sperm fluorescence in situ hybridization analysis over PGD. Hum Reprod 24:1516–1521
   PubMed Web of Science ®Google Scholar
• Sciurano, R.B., Rahn, M.I., Rey-Valzacchi, G., Coco, R. and Solari, A.J. (2012) The role of asynapsis in human spermatocyte failure. Int J Androl 35:541–549
   PubMed Web of Science ®Google Scholar
• Shaffer, L.G. (2006) Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation. Prenat Diagn 26:303–307
   PubMed Web of Science ®Google Scholar
• Shah, K., Sivapalan, G., Gibbons, N., Tempest, H. and Griffin, D.K. (2003) The genetic basis of infertility. Reproduction 126:13–25
   PubMed Web of Science ®Google Scholar
• Sun, F., Trpkov, K., Rademaker, A., Ko, E. and Martin, R.H. (2005) Variation in meiotic recombination frequencies among human males. Hum Genet 116:172–178
   PubMed Web of Science ®Google Scholar
• Sun, F., Oliver-Bonet, M., Liehr, T., Starke, H., Turek, P., Ko, E., et al. (2006a) Variation in MLH1 distribution in recombination maps for individual chromosomes from human males. Hum Mol Genet 15:2376–2391
   PubMed Web of Science ®Google Scholar
• Sun, F., Oliver-Bonet, M., Liehr,T., Starke, H., Turek, P., Ko, E., et al. (2006b) Analysis of non-crossover bivalents in pachytene cells from 10 normal men. Hum Reprod 21:2335–2339
   PubMed Web of Science ®Google Scholar
• Sun, F., Turek, P., Greene, C., Ko, E., Rademaker, A. and Martin, R.H. (2007) Abnormal progression through meiosis in men with nonobstructive azoospermia. Fertil Steril 87:565–571
   PubMed Web of Science ®Google Scholar
• Vozdova, M., Heracek, J., Sobotka, V. and Rubes, J. (2012) Testicular sperm aneuploidy in non-obstructive azoospermic patients. Hum Reprod 27:2233–2339
   PubMed Web of Science ®Google Scholar
• Vozdova, M., Oracova, E., Kasikova, K., Prinosilova, P., Rybar, R., Horinova, V., et al. (2013) Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy. J Assist Reprod Genet 30:391–405
   PubMed Web of Science ®Google Scholar
• Yip, M.Y. (2014) Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing. Transl Pediatr 3:98–107
   Google Scholar