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A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure Cover

A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure

By: S Verma,  R Shah,  A Bhat,  GR Bhat,  R Dada and  R Kumar  
Open Access
|Dec 2018

References

  1. Wang J, Sauer MV. In vitro fertilization (IVF): A review of 3 decades of clinical innovation and technological advancement. Ther Clin Risk Manag. 2006; 2(4): 355-364.
  2. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S, et al. Chromosomal factors of infertility in candidate couples for ICSI: An equal risk of constitutional aberrations in women and men. Hum Reprod. 2001; 16(1): 82-90.
  3. Heard E, Turner J. Function of the sex chromosomes in mammalian fertility. Cold Spring Harbor Perspect Biol. 2011; 3(10): a002675.
  4. Zhang H, Wang R, Li L, Sun W, Zhang H, Liu R. Male carriers of balanced reciprocal translocations in Northeast China: Sperm count, reproductive performance, and genetic counseling. Genet Mol Res. 2015; 14(4): 18792-18798.
  5. Mau-Holzmann U. Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res. 2005; 111 (3-4): 317-336.
  6. Elfateh F, Wang R, Zhang Z, Jiang Y, Chen S, Liu R. Influence of genetic abnormalities on semen quality and male fertility: A four-year prospective study. Iran J Reprod Med. 2014; 12(2): 95-102.
  7. Kumar R, Tanwar M, Ammini AC, Kumar R, Gupta NP, Sharma RK, et al. Robertsonian translocation and their role in pathogenesis of recurrent in vitro fertilization failure. Med Sci Monit. 2008; 14(12): CR617-CR620.
  8. Guichaoua M, Quack B, Speed R, Noel B, Chandley A, Luciani J. Infertility in human males with autosomal translocations: Meiotic study of a 14;22 Robertsonian translocation. Hum Genet. 1990; 86(2): 162-166.
  9. Suganya J, Kujur SB, Selvaraj K, Suruli MS, Haripriya G, Samuel CR. Chromosomal abnormalities in infertile men from southern India. J Clin Diagn Res. 2015; 9(7): GC05-GC10.
  10. Vasilevska M, Ivanovska E, Kubelka Sabit K, Sukarova-Angelovska E, Dimeska G. The incidence and type of chromosomal translocations from prenatal diagnosis of 3800 patients in the Republic of Macedonia. Balkan J Med Genet. 2013; 16(2): 23-28.
  11. Chatziparasidou A, Christoforidis N, Samolada G, Nijs M. Sperm aneuploidy in infertile male patients: A systematic review of the literature. Andrologia. 2015; 47(8): 847-860.
  12. Rooney DE, Czepulkowski BH, Editors. Human Cytogenetics: A Practical Approach. Volume II: Malignancy and Acquired Abnormalities, 2nd ed. Oxford, Oxfordshire, UK: Oxford University Press, 2009.
  13. Sumner A. The nature and mechanisms of chromosome banding. Cancer Genet Cytogenet. 1982; 6(1): 59-87.
  14. McGowan-Jordan J, Simons A, Schmid M, Editors. An International System of Human Cytogenomic Nomenclature (2016). Basel, Switzerland: S. Karger AG, 2016.
  15. Murphy F, Merrell J. Negotiating the transition: Caring for women through the experience of early miscarriage. J Clin Nurs. 2009; 18(11): 1583-15891.
  16. Shamsi MB, Venkatesh S, Pathak D, Deka D, Dada R. Sperm DNA damage and oxidative stress in recurrent spontaneous abortion (RSA). Indian J Med Res. 2011; 133(5): 550-551.
  17. Zarifian A, Farhoodi Z, Amel R, Mirzaee S, Hassanzadeh-Nazarabadi M. Balanced chromosomal rearrangement in recurrent spontaneous abortions: A case report. Int J Mol Cell Med. 2012; 1(4): 225-228.
  18. Carp H, Guetta E, Dorf H, Soriano D, Barkai G, Schiff E. Embryonic karyotype in recurrent miscarriage with parental karyotypic aberrations. Fertil Steril. 2006; 85(2): 446-450.
  19. Moedjono SJ, Sparkes RS. Partial trisomy of 13(pter to q12) due to 47,XY, + der(13),t(13;22)(q12;q13) mat. Hum Genet. 1979; 50(3): 241-246.
  20. Kato T, Kurahashi H, Emanuel BS. Chromosomal translocations and palindromic AT-rich repeats. Curr Opin Genet Dev. 2012; 22(3): 221-228.
  21. Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer M, Shanske A, et al. AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J Hum Genet. 2001; 68(1): 1-13.
  22. Golam Sabbir M, Roy A, Mandal S, Dam A, Roy-choudhury S, Panda CK. Deletion mapping of chromosome 13q in head and neck squamous cell carcinoma in Indian patients: Correlation with prognosis of the tumour. Int J Exp Pathol. 2006; 87(2): 151-161.
  23. Manjunatha K, Chetan G, Arathi R, Rao GB, Latha P, Padma S, et al. Frequency, association and genetic implications of chromosomal fragile sites in mental retardation. Int J Hum Genet. 2002; 2(1): 33-39.
  24. Shamsi M, Kumar K, Dada R. Genetic and epigenetic factors: Role in male infertility. Indian J Urol. 2011; 27(1): 110-120.
  25. Gardner RJM, Sutherland GR, Shaffer LG, Editors. Chromosome Abnormalities and Genetic Counseling, 4th ed. New York, NY, USA: Oxford University Press, 2012.
  26. Harton GL, Tempest HG. Chromosomal disorders and male infertility. Asian J Androl. 2012; 14(1): 32-39.
  27. Daniel A. Spontaneous loss of fetuses with chromosomally unbalanced D/21 – or reciprocal translocations in late pregnancy. Am J Med Genet Part A. 1989; 33(2): 285.
  28. Midro AT, Stengel Rutkowski S, Stene J. Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin Genet. 1992; 41(3): 113-122.
  29. Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O. Cytogenetic survey of subfertile males in Japan. Urol Int. 1989; 44(4): 194-197.
  30. Evgeni E, Charalabopoulos K, Asimakopoulos B. Human sperm DNA fragmentation and its correlation with conventional semen parameters. J Reprod Infertil. 2014; 15(1): 2-14.
  31. Munné S. Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization. Curr Genomics. 2012; 13(6): 463-470.
  32. Coulam C, Jeyendran R, Fiddler M, Pergament E. Discordance among blastomeres renders preimplantation genetic diagnosis for aneuploidy ineffective. J Assist Reprod Genet. 2007; 24(1): 37-41.
  33. Timeva T, Shterev A, Kyurkchiev S. Recurrent implantation failure: The role of the endometrium. J Reprod Infertil. 2014; 15(4): 173-183.
Language: English
Page range: 73 - 77
Published on: Dec 31, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2018 S Verma, R Shah, A Bhat, GR Bhat, R Dada, R Kumar, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.