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2016
H. G. Zhang, Zhang, X. Y., Zhang, H. Y., Tian, T., Xu, S. B., Liu, R. Z., Zhang, H. G., Zhang, X. Y., Zhang, H. Y., Tian, T., Xu, S. B., and Liu, R. Z., Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling, vol. 15, p. -, 2016.
H. G. Zhang, Zhang, X. Y., Zhang, H. Y., Tian, T., Xu, S. B., Liu, R. Z., Zhang, H. G., Zhang, X. Y., Zhang, H. Y., Tian, T., Xu, S. B., and Liu, R. Z., Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling, vol. 15, p. -, 2016.
R. X. Wang, Zhang, H. G., Pan, Y., Zhu, J. H., Yue, F. G., Xue, L. T., Liu, R. Z., Wang, R. X., Zhang, H. G., Pan, Y., Zhu, J. H., Yue, F. G., Xue, L. T., and Liu, R. Z., Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling, vol. 15, no. 4, p. -, 2016.
Conflicts of interest The authors declare no conflict of interest. ACKNOWLEDGMENTS We express our sincere gratitude to the staff of the Genetics Laboratory, Center for Prenatal Diagnosis, First Hospital, Jilin University, for their support. Research supported by the National Natural Science Fund (#81471515). REFERENCES Avidan N, Tamary H, Dgany O, Cattan D, et al (2003). CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur. J. Hum. Genet. 11: 497-502. http://dx.doi.org/10.1038/sj.ejhg.5200991 Bianco B, Christofolini D, Gava M, Mafra F, et al (2011). Severe oligospermia associated with a unique balanced reciprocal translocation t(6;12)(q23;q24.3): male infertility related to t(6;12). Andrologia 43: 145-148. http://dx.doi.org/10.1111/j.1439-0272.2009.01020.x Dutta UR, Rajitha P, Pidugu VK, Dalal AB, et al (2011). Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review. J. Assist. Reprod. Genet. 28: 145-149. http://dx.doi.org/10.1007/s10815-010-9492-6 Fryns JP, Van Buggenhout G, et al (1998). Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur. J. Obstet. Gynecol. Reprod. Biol. 81: 171-176. http://dx.doi.org/10.1016/S0301-2115(98)00185-7 Gaboon NE, Mohamed AR, Elsayed SM, Zaki OK, et al (2015). Structural chromosomal abnormalities in couples with recurrent abortion in Egypt. Turk. J. Med. Sci. 45: 208-213. http://dx.doi.org/10.3906/sag-1310-5 Gada Saxena S, Desai K, Shewale L, Ranjan P, et al (2012). Chromosomal aberrations in 2000 couples of Indian ethnicity with reproductive failure. Reprod. Biomed. Online 25: 209-218. http://dx.doi.org/10.1016/j.rbmo.2012.04.004 Ghazaey S, Keify F, Mirzaei F, Maleki M, et al (2015). Chromosomal analysis of couples with repeated spontaneous abortions in northeastern iran. Int. J. Fertil. Steril. 9: 47-54. Godo A, Blanco J, Vidal F, Anton E, et al (2013). Accumulation of numerical and structural chromosome imbalances in spermatozoa from reciprocal translocation carriers. Hum. Reprod. 28: 840-849. http://dx.doi.org/10.1093/humrep/des431 Hao Z, Wolkowicz MJ, Shetty J, Klotz K, et al (2002). SAMP32, a testis-specific, isoantigenic sperm acrosomal membrane-associated protein. Biol. Reprod. 66: 735-744. http://dx.doi.org/10.1095/biolreprod66.3.735 Harton GL, Tempest HG, et al (2012). Chromosomal disorders and male infertility. Asian J. Androl. 14: 32-39. http://dx.doi.org/10.1038/aja.2011.66 Ichioka K, Yoshimura K, Honda T, Takahashi A, et al (2005). Paracentric inversion of chromosome 7(q22-31) associated with nonobstructive azoospermia. Fertil. Steril. 83: 455-456. http://dx.doi.org/10.1016/j.fertnstert.2004.06.070 Jones MH, Davey PM, Aplin H, Affara NA, et al (1995). Expression analysis, genomic structure, and mapping to 7q31 of the human sperm adhesion molecule gene SPAM1. Genomics 29: 796-800. http://dx.doi.org/10.1006/geno.1995.9931 Kochhar PK, Ghosh P, et al (2013). Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J. Obstet. Gynaecol. Res. 39: 113-120. http://dx.doi.org/10.1111/j.1447-0756.2012.01905.x Li L, Chen H, Yin C, Yang C, et al (2014). Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male. Gene 547: 43-49. http://dx.doi.org/10.1016/j.gene.2014.06.007 Li LL, Dong Y, Wang RX, An N, et al (2015). Sperm aneuploidy and implications for genetic counseling in a pedigree of three t(1;3) balanced translocation carriers. Genet. Mol. Res. 14: 5003-5009. http://dx.doi.org/10.4238/2015.May.12.3 Martin-DeLeon PA, et al (2006). Epididymal SPAM1 and its impact on sperm function. Mol. Cell. Endocrinol. 250: 114-121. http://dx.doi.org/10.1016/j.mce.2005.12.033 Niroumanesh S, Mehdipour P, Farajpour A, Darvish S, et al (2011). A cytogenetic study of couples with repeated spontaneous abortions. Ann. Saudi Med. 31: 77-79. http://dx.doi.org/10.4103/0256-4947.75785 Pasquier L, Fradin M, Chérot E, Martin-Coignard D, et al (2016). Karyotype is not dead (yet)! Eur. J. Med. Genet. 59: 11-15. http://dx.doi.org/10.1016/j.ejmg.2015.11.016 Pastuszek E, Kiewisz J, Kulwikowska PM, Lukaszuk M, et al (2015). Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers. Folia Histochem. Cytobiol. 53: 314-321. http://dx.doi.org/10.5603/fhc.a2015.0032 Pernice F, Mazza G, Puglisi D, Luppino MG, et al (2002). Nonrobertsonian translocation t(6;11) is associated with infertility in an oligoazoospermic male. Fertil. Steril. 78: 192-194. http://dx.doi.org/10.1016/S0015-0282(02)03180-1 Tharapel AT, Tharapel SA, Bannerman RM, et al (1985). Recurrent pregnancy losses and parental chromosome abnormalities: a review. Br. J. Obstet. Gynaecol. 92: 899-914. http://dx.doi.org/10.1111/j.1471-0528.1985.tb03069.x Tunç E, Tanrıverdi N, Demirhan O, Süleymanova D, et al (2016). Chromosomal analyses of 1510 couples who have experienced recurrent spontaneous abortions. Reprod. Biomed. Online 32: 414-419. http://dx.doi.org/10.1016/j.rbmo.2016.01.006 van Baren MJ, van der Linde HC, Breedveld GJ, Baarends WM, et al (2002). A double RING-H2 domain in RNF32, a gene expressed during sperm formation. Biochem. Biophys. Res. Commun. 292: 58-65. http://dx.doi.org/10.1006/bbrc.2002.6612 Vozdova M, Oracova E, Horinova V, Rubes J, et al (2008). Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18). Hum. Reprod. 23: 581-588. http://dx.doi.org/10.1093/humrep/dem345 Vozdova M, Oracova E, Kasikova K, Prinosilova P, 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. http://dx.doi.org/10.1007/s10815-012-9921-9 Zhang HG, Liu XY, Hou Y, Chen S, et al (2015a). Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling. Genet. Mol. Res. 14: 2809-2815. http://dx.doi.org/10.4238/2015.March.31.11 Zhang HG, Wang RX, Li LL, Sun WT, et al (2015b). Male carriers of balanced reciprocal translocations in Northeast China: sperm count, reproductive performance, and genetic counseling. Genet. Mol. Res. 14: 18792-18798. http://dx.doi.org/10.4238/2015.December.28.28 Zhang M, Fan HT, Zhang QS, Wang XY, et al (2015c). Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China. Genet. Mol. Res. 14: 16178-16184. http://dx.doi.org/10.4238/2015.December.8.7
R. X. Wang, Zhang, H. G., Pan, Y., Zhu, J. H., Yue, F. G., Xue, L. T., Liu, R. Z., Wang, R. X., Zhang, H. G., Pan, Y., Zhu, J. H., Yue, F. G., Xue, L. T., and Liu, R. Z., Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling, vol. 15, no. 4, p. -, 2016.
Conflicts of interest The authors declare no conflict of interest. ACKNOWLEDGMENTS We express our sincere gratitude to the staff of the Genetics Laboratory, Center for Prenatal Diagnosis, First Hospital, Jilin University, for their support. Research supported by the National Natural Science Fund (#81471515). REFERENCES Avidan N, Tamary H, Dgany O, Cattan D, et al (2003). CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur. J. Hum. Genet. 11: 497-502. http://dx.doi.org/10.1038/sj.ejhg.5200991 Bianco B, Christofolini D, Gava M, Mafra F, et al (2011). Severe oligospermia associated with a unique balanced reciprocal translocation t(6;12)(q23;q24.3): male infertility related to t(6;12). Andrologia 43: 145-148. http://dx.doi.org/10.1111/j.1439-0272.2009.01020.x Dutta UR, Rajitha P, Pidugu VK, Dalal AB, et al (2011). Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review. J. Assist. Reprod. Genet. 28: 145-149. http://dx.doi.org/10.1007/s10815-010-9492-6 Fryns JP, Van Buggenhout G, et al (1998). Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur. J. Obstet. Gynecol. Reprod. Biol. 81: 171-176. http://dx.doi.org/10.1016/S0301-2115(98)00185-7 Gaboon NE, Mohamed AR, Elsayed SM, Zaki OK, et al (2015). Structural chromosomal abnormalities in couples with recurrent abortion in Egypt. Turk. J. Med. Sci. 45: 208-213. http://dx.doi.org/10.3906/sag-1310-5 Gada Saxena S, Desai K, Shewale L, Ranjan P, et al (2012). Chromosomal aberrations in 2000 couples of Indian ethnicity with reproductive failure. Reprod. Biomed. Online 25: 209-218. http://dx.doi.org/10.1016/j.rbmo.2012.04.004 Ghazaey S, Keify F, Mirzaei F, Maleki M, et al (2015). Chromosomal analysis of couples with repeated spontaneous abortions in northeastern iran. Int. J. Fertil. Steril. 9: 47-54. Godo A, Blanco J, Vidal F, Anton E, et al (2013). Accumulation of numerical and structural chromosome imbalances in spermatozoa from reciprocal translocation carriers. Hum. Reprod. 28: 840-849. http://dx.doi.org/10.1093/humrep/des431 Hao Z, Wolkowicz MJ, Shetty J, Klotz K, et al (2002). SAMP32, a testis-specific, isoantigenic sperm acrosomal membrane-associated protein. Biol. Reprod. 66: 735-744. http://dx.doi.org/10.1095/biolreprod66.3.735 Harton GL, Tempest HG, et al (2012). Chromosomal disorders and male infertility. Asian J. Androl. 14: 32-39. http://dx.doi.org/10.1038/aja.2011.66 Ichioka K, Yoshimura K, Honda T, Takahashi A, et al (2005). Paracentric inversion of chromosome 7(q22-31) associated with nonobstructive azoospermia. Fertil. Steril. 83: 455-456. http://dx.doi.org/10.1016/j.fertnstert.2004.06.070 Jones MH, Davey PM, Aplin H, Affara NA, et al (1995). Expression analysis, genomic structure, and mapping to 7q31 of the human sperm adhesion molecule gene SPAM1. Genomics 29: 796-800. http://dx.doi.org/10.1006/geno.1995.9931 Kochhar PK, Ghosh P, et al (2013). Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J. Obstet. Gynaecol. Res. 39: 113-120. http://dx.doi.org/10.1111/j.1447-0756.2012.01905.x Li L, Chen H, Yin C, Yang C, et al (2014). Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male. Gene 547: 43-49. http://dx.doi.org/10.1016/j.gene.2014.06.007 Li LL, Dong Y, Wang RX, An N, et al (2015). Sperm aneuploidy and implications for genetic counseling in a pedigree of three t(1;3) balanced translocation carriers. Genet. Mol. Res. 14: 5003-5009. http://dx.doi.org/10.4238/2015.May.12.3 Martin-DeLeon PA, et al (2006). Epididymal SPAM1 and its impact on sperm function. Mol. Cell. Endocrinol. 250: 114-121. http://dx.doi.org/10.1016/j.mce.2005.12.033 Niroumanesh S, Mehdipour P, Farajpour A, Darvish S, et al (2011). A cytogenetic study of couples with repeated spontaneous abortions. Ann. Saudi Med. 31: 77-79. http://dx.doi.org/10.4103/0256-4947.75785 Pasquier L, Fradin M, Chérot E, Martin-Coignard D, et al (2016). Karyotype is not dead (yet)! Eur. J. Med. Genet. 59: 11-15. http://dx.doi.org/10.1016/j.ejmg.2015.11.016 Pastuszek E, Kiewisz J, Kulwikowska PM, Lukaszuk M, et al (2015). Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers. Folia Histochem. Cytobiol. 53: 314-321. http://dx.doi.org/10.5603/fhc.a2015.0032 Pernice F, Mazza G, Puglisi D, Luppino MG, et al (2002). Nonrobertsonian translocation t(6;11) is associated with infertility in an oligoazoospermic male. Fertil. Steril. 78: 192-194. http://dx.doi.org/10.1016/S0015-0282(02)03180-1 Tharapel AT, Tharapel SA, Bannerman RM, et al (1985). Recurrent pregnancy losses and parental chromosome abnormalities: a review. Br. J. Obstet. Gynaecol. 92: 899-914. http://dx.doi.org/10.1111/j.1471-0528.1985.tb03069.x Tunç E, Tanrıverdi N, Demirhan O, Süleymanova D, et al (2016). Chromosomal analyses of 1510 couples who have experienced recurrent spontaneous abortions. Reprod. Biomed. Online 32: 414-419. http://dx.doi.org/10.1016/j.rbmo.2016.01.006 van Baren MJ, van der Linde HC, Breedveld GJ, Baarends WM, et al (2002). A double RING-H2 domain in RNF32, a gene expressed during sperm formation. Biochem. Biophys. Res. Commun. 292: 58-65. http://dx.doi.org/10.1006/bbrc.2002.6612 Vozdova M, Oracova E, Horinova V, Rubes J, et al (2008). Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18). Hum. Reprod. 23: 581-588. http://dx.doi.org/10.1093/humrep/dem345 Vozdova M, Oracova E, Kasikova K, Prinosilova P, 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. http://dx.doi.org/10.1007/s10815-012-9921-9 Zhang HG, Liu XY, Hou Y, Chen S, et al (2015a). Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling. Genet. Mol. Res. 14: 2809-2815. http://dx.doi.org/10.4238/2015.March.31.11 Zhang HG, Wang RX, Li LL, Sun WT, et al (2015b). Male carriers of balanced reciprocal translocations in Northeast China: sperm count, reproductive performance, and genetic counseling. Genet. Mol. Res. 14: 18792-18798. http://dx.doi.org/10.4238/2015.December.28.28 Zhang M, Fan HT, Zhang QS, Wang XY, et al (2015c). Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China. Genet. Mol. Res. 14: 16178-16184. http://dx.doi.org/10.4238/2015.December.8.7
L. L. Li, Zhang, H. G., Shao, X. G., Gao, J. C., Zhang, H. Y., Liu, R. Z., Li, L. L., Zhang, H. G., Shao, X. G., Gao, J. C., Zhang, H. Y., and Liu, R. Z., De novo interstitial deletion in the long arm of chromosome 11: a case report, vol. 15, p. -, 2016.
L. L. Li, Zhang, H. G., Shao, X. G., Gao, J. C., Zhang, H. Y., Liu, R. Z., Li, L. L., Zhang, H. G., Shao, X. G., Gao, J. C., Zhang, H. Y., and Liu, R. Z., De novo interstitial deletion in the long arm of chromosome 11: a case report, vol. 15, p. -, 2016.
R. X. Wang, Zhang, H. G., Pan, Y., Chen, S., Yue, F. G., Zhu, D. L., Liu, R. Z., Wang, R. X., Zhang, H. G., Pan, Y., Chen, S., Yue, F. G., Zhu, D. L., and Liu, R. Z., Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling, vol. 15, p. -, 2016.
R. X. Wang, Zhang, H. G., Pan, Y., Chen, S., Yue, F. G., Zhu, D. L., Liu, R. Z., Wang, R. X., Zhang, H. G., Pan, Y., Chen, S., Yue, F. G., Zhu, D. L., and Liu, R. Z., Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling, vol. 15, p. -, 2016.