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Open Med (Wars). 2019 Nov 10;14:854-862. doi: 10.1515/med-2019-0100. eCollection 2019.

Clinical Features of Infertile Men Carrying a Chromosome 9 Translocation.

Open medicine (Warsaw, Poland)

Ruixue Wang, Yang Yu, Qiyuan Wang, Yuting Jiang, Linlin Li, Haibo Zhu, Ruizhi Liu, Hongguo Zhang

Affiliations

  1. Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, 71 Xinmin Street, Chaoyang District, Changchun, Jilin Province 130021, China.
  2. Experimental School of Changchun Jida Middle School, Changchun, China.

PMID: 31737790 PMCID: PMC6843491 DOI: 10.1515/med-2019-0100

Abstract

Previous studies indicated that chromosome 9 translocations are involved in reduced male fertility and increased chance of miscarriage in the female partner. The aim of this study was to review the clinical features and genetic counselling requirements of infertile men carrying chromosome 9 translocations. This study analyzed fertile-age male carriers of chromosome 9 translocations, and included 12 clinical cases in our hospital. In our cases, three cases had oligozoospermia or severe oligozoospermia, while nine cases had normal semen. Of the latter nine cases, seven were associated with recurrent spontaneous abortions, and two produced a phenotypically normal child as confirmed by amniocentesis. Male chromosome 9 translocations and specific breakpoints from reported papers were searched using PubMed and CNKI database. A literature review identified 76 male patients who carried chromosome 9 translocations. Breakpoints at 9p12, 9p11, 9p10 and 9q34.1 were related to pregestational infertility, while breakpoints at 9p21, 9q10, 9q11, 9q13, 9q21.1, 9q22, 9q22.2, 9q22.3, 9q34, 9q34.2 and 9q34.3 exhibited gestational infertility. Chromosome translocations involving chromosome 9 lead to increased risk of miscarriage. Carriers of chromosome 9 translocations should be counselled to consider in vitro fertilization accompanied by preimplantation genetic diagnosis.

© 2019 Ruixue Wang et al, published by De Gruyter.

Keywords: Breakpoint; Chromosomal translocation; Chromosome 9; Genetic counselling; Male infertility

Conflict of interest statement

Conflict of interest The authors have declared no conflicts of interest.

References

  1. J Hum Genet. 2003;48(10):535-40 - PubMed
  2. Hum Reprod. 2013 Mar;28(3):840-9 - PubMed
  3. J Biol Chem. 1995 Dec 29;270(52):31331-7 - PubMed
  4. Chromosome Res. 2008;16(2):291-305 - PubMed
  5. Eur J Obstet Gynecol Reprod Biol. 2016 Aug;203:214-9 - PubMed
  6. Hum Reprod. 2015 Feb;30(2):484-9 - PubMed
  7. Hum Genet. 1986 Dec;74(4):399-401 - PubMed
  8. Turk J Med Sci. 2018 Feb 23;48(1):150-156 - PubMed
  9. J Assist Reprod Genet. 2013 Mar;30(3):383-90 - PubMed
  10. Hum Reprod Update. 2011 Jul-Aug;17(4):467-75 - PubMed
  11. Reprod Biomed Online. 2012 Aug;25(2):209-18 - PubMed
  12. Mol Cell Proteomics. 2014 Feb;13(2):397-406 - PubMed
  13. Turk J Med Sci. 2015;45(1):208-13 - PubMed
  14. Eur J Hum Genet. 2013 Oct;21(10):1035-41 - PubMed
  15. Cytogenet Cell Genet. 1988;47(1-2):48-51 - PubMed
  16. Cytogenet Cell Genet. 1998;83(3-4):193-8 - PubMed
  17. Cytogenet Cell Genet. 1997;78(3-4):202-8 - PubMed
  18. Eur J Hum Genet. 2004 Dec;12(12):993-1000 - PubMed
  19. Mol Cell Endocrinol. 1989 Oct;66(2):251-5 - PubMed
  20. Eur J Med Genet. 2007 Nov-Dec;50(6):455-64 - PubMed
  21. Hum Reprod. 2006 Apr;21(4):1076-82 - PubMed
  22. Hum Reprod. 2001 Jun;16(6):1155-64 - PubMed
  23. Reprod Biomed Online. 2007 Mar;14(3):314-21 - PubMed
  24. Urol Int. 1997;58(3):166-76 - PubMed
  25. Cytogenet Genome Res. 2005;111(3-4):281-90 - PubMed
  26. Prenat Diagn. 2004 Jul;24(7):556-61 - PubMed
  27. Fertil Steril. 2011 Jan;95(1):349-52, 352.e1-5 - PubMed
  28. Fertil Steril. 2003 Jun;79 Suppl 3:1528-34 - PubMed
  29. Int J Fertil Steril. 2015 Apr-Jun;9(1):47-54 - PubMed
  30. Hinyokika Kiyo. 1992 Jul;38(7):803-9 - PubMed
  31. Asian J Androl. 2012 Jan;14(1):32-9 - PubMed
  32. Mol Cytogenet. 2018 Jan 25;11:10 - PubMed
  33. Eur J Obstet Gynecol Reprod Biol. 2006 Jul;127(1):106-9 - PubMed
  34. Int J Fertil Steril. 2014 Apr;8(1):35-42 - PubMed
  35. J Endocrinol Invest. 2000 Nov;23(10):677-83 - PubMed
  36. Hum Genet. 2000 May;106(5):517-24 - PubMed
  37. Fertil Steril. 2006 Oct;86(4):1001.e7-9 - PubMed
  38. Genomics. 2002 Mar;79(3):333-43 - PubMed
  39. Reprod Biomed Online. 2003 Nov;7(5):563-71 - PubMed
  40. Cytogenet Cell Genet. 1992;60(1):18-21 - PubMed
  41. Hum Genet. 1999 Nov;105(5):428-36 - PubMed
  42. Mol Hum Reprod. 2013 Feb;19(2):109-17 - PubMed
  43. Am J Med Genet A. 2010 Jun;152A(6):1428-33 - PubMed
  44. J Obstet Gynaecol Res. 2013 Jan;39(1):113-20 - PubMed
  45. Reprod Biomed Online. 2017 Oct;35(4):372-378 - PubMed
  46. Reprod Toxicol. 2006 Aug;22(2):133-41 - PubMed
  47. J Obstet Gynaecol Res. 2014 Jan;40(1):109-16 - PubMed
  48. Asian J Androl. 2017 Jan-Feb;19(1):117-124 - PubMed
  49. Eur J Obstet Gynecol Reprod Biol. 1998 Dec;81(2):171-6 - PubMed
  50. Nat Cell Biol. 2007 Mar;9(3):347-53 - PubMed
  51. Clin Genet. 1995 Jan;47(1):42-6 - PubMed
  52. Am J Med Genet. 1988 Mar;29(3):549-56 - PubMed
  53. Int Braz J Urol. 2018 Jul-Aug;44(4):785-793 - PubMed
  54. Hum Reprod. 2001 Jan;16(1):82-90 - PubMed
  55. J Biol Chem. 2004 Aug 13;279(33):34971-82 - PubMed
  56. Hum Reprod. 2006 Mar;21(3):685-93 - PubMed
  57. Am J Hum Genet. 2010 Oct 8;87(4):505-12 - PubMed
  58. Int J Mol Med. 2007 Jun;19(6):855-64 - PubMed
  59. Asian J Androl. 2009 May;11(3):325-32 - PubMed
  60. J Hum Genet. 2008;53(7):622-8 - PubMed
  61. Cell. 2012 Jan 20;148(1-2):189-200 - PubMed
  62. Hum Reprod. 2012 Sep;27(9):2850-6 - PubMed
  63. Int J Androl. 2005 Dec;28(6):372-9 - PubMed
  64. J Assist Reprod Genet. 2012 Aug;29(8):829-36 - PubMed
  65. J Assist Reprod Genet. 2013 Mar;30(3):391-405 - PubMed
  66. Reprod Biomed Online. 2014 Oct;29(4):490-8 - PubMed
  67. Genet Med. 2008 Oct;10(10):730-8 - PubMed
  68. Genet Mol Res. 2015 Dec 29;14(4):18792-8 - PubMed
  69. Genet Mol Res. 2016 Oct 5;15(4): - PubMed
  70. Biochim Biophys Acta. 1998 Jul 30;1399(1):62-6 - PubMed
  71. Hum Reprod. 1986 Feb;1(2):99-102 - PubMed
  72. PLoS One. 2015 Jun 17;10(6):e0129958 - PubMed
  73. Hum Reprod. 2004 Oct;19(10):2227-30 - PubMed
  74. Hum Genet. 1990 Nov;86(1):33-9 - PubMed
  75. Medicine (Baltimore). 2018 Apr;97(15):e0452 - PubMed
  76. Hum Reprod. 2011 Jul;26(7):1925-35 - PubMed
  77. Med Sci Monit. 2018 Jun 18;24:4162-4168 - PubMed
  78. J Assist Reprod Genet. 2011 Feb;28(2):145-9 - PubMed
  79. Am J Hum Genet. 1989 Apr;44(4):464-73 - PubMed
  80. Andrology. 2013 Jul;1(4):632-8 - PubMed
  81. Fertil Steril. 2009 Aug;92(2):583-9 - PubMed

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