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The Relationship Between De novo t(1;6)(p13p21.3) Balanced Reciprocal Translocation and Infertility

Year 2020, Volume: 10 Issue: 1, 108 - 110, 31.01.2020
https://doi.org/10.33631/duzcesbed.556258

Abstract

Infertility is
an important health problem affecting about 15% of couples all over the world.
Infertility can occur because of a combined etiology where both female and male
factors are combined. In nearly 40% of the patients, the etiology is unclear.
Balanced reciprocal translocations are the most common structural chromosomal
abnormalities in humans and they are closely related with infertility. Balanced
reciprocal translocations mostly do not affect the phenotype of the carriers
however, these individuals have a significantly increased risk in terms of
chromosomally unstable gametes. The chromosomal region 6p21.3 contains many
genes associated with infertility. Translocations involving the 6p21.3
chromosomal region are generally associated with infertility. In this study,
the relationship between infertility and t(1;6)(p13p21.3) balanced reciprocal
translocation was discussed.

References

  • 1. Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singapore Med J. 2009; 50(4): 336-47.
  • 2. Theisen A, Shaffer LG. Disorders caused by chromosome abnormalities. Appl Clin Genet. 2010; 3: 159-74. doi: 10.2147/TACG.S8884.
  • 3. De P, Chakravarty S, Chakravarty A. Novel balanced chromosomal translocations in females with recurrent spontaneous abortions: two case studies. J Hum Reprod Sci. 2015; 8(2): 114-7.
  • 4. Utami KH, Hillmer AM, Aksoy I, Chew EG, Teo AS, Zhang Z, et al. Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders. PLoS One. 2014; 9(6): e90852.
  • 5. Zhang H, Wang R, Li L, Jiang Y, Zhang H, Liu R. Clinical feature of infertile men carrying balanced translocations involving chromosome 10: case series and a review of the literature. Medicine (Baltimore). 2018; 97(15): e0452.
  • 6. Paoloni-Giacobino A, Kern I, Rumpler Y, Djlelati R, Morris MA, Dahoun SP. Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility. Clin Genet. 2000; 58(4): 324-8.
  • 7. Berner AL, Bağci S, Wohlleber E, Engels E, Müller A, Bartmann P, et al. Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature. Cytogenet Genome Res. 2012; 136(4): 308-13.
  • 8. Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A. Role of genetics in azoospermia. Urology. 2011; 77(3): 598-601.
  • 9. Jiang T, Wang Y, Zhu M, Wang Y, Huang M, Jin G, et al. Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese population. Fertil Steril. 2017; 108(6): 1056- 62.e4.
  • 10. Sujit KM, Sarkar S, Singh V, Pandey R, Agrawal NK, Trivedi S, et al. Genome-wide differential methylation analyses identifies methylation signatures of male infertility. Hum Reprod. 2018; 33(12): 2256-67.
  • 11. Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, et al. Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. Am J Hum Genet. 2013; 92(5): 760-6.
  • 12. Truong BN, Moses EK, Armes JE, Venter DJ, Baker HW. Searching for candidate genes for male infertility. Asian J Androl. 2003; 5(2): 137-47.
  • 13. Wang RX, Zhang HG, Pan Y, Chen S, Yue FG, Zhu DL, et al. Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling. Genet Mol Res. 2016; 15(4): 1-7. doi: 10.4238/gmr.15048707.
  • 14. Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, et al. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet. 2014; 51(4): 264-7.
  • 15. Dong Z, Wang H, Chen H, Jiang H, Yuan J, Yang Z, et al. Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med. 2017; 20(7): 697-707.

De novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite ile İlişkisi

Year 2020, Volume: 10 Issue: 1, 108 - 110, 31.01.2020
https://doi.org/10.33631/duzcesbed.556258

Abstract

İnfertilite tüm dünyada çiftlerin yaklaşık %15’ini
etkileyen önemli bir sağlık sorunudur. İnfertilite hem erkek hem de kadın
kaynaklı faktörler ile ortaya çıkabilir. Vakaların yaklaşık %40’ında tiyoloji
belirsizdir. Dengeli resiprokal translokasyonlar, insanlarda en yaygın olarak
karşılaşılan yapısal kromozom anomalileridir ve infertilite ile yakından
ilişkilidir. Dengeli resiprokal translokasyonlar çoğunlukla taşıyıcıların
fenotipini etkilemez ancak kromozomal olarak dengesiz gamet oluşturma yönünden
bu kişiler anlamlı şekilde artmış riske sahiptir. 6p21.3 kromozomal bölgesi
infertilite ile ilişkili birçok geni barındırmaktadır. 6p21.3 bölgesini içine
alan dengeli resiprokal translokasyonlar genellikle infertilite ile
ilişkilendirilmiştir. Bu çalışmada bilim dalımıza infertilite nedeni ile refere
edilen çiftten yapılan karyotip analizi sonucunda erkekte tespit ettiğimiz
t(1;6)(p13p21.3) dengeli resiprokal translokasyonun infertiliteyle ilişkisi üzerinde
durulmuştur.

References

  • 1. Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singapore Med J. 2009; 50(4): 336-47.
  • 2. Theisen A, Shaffer LG. Disorders caused by chromosome abnormalities. Appl Clin Genet. 2010; 3: 159-74. doi: 10.2147/TACG.S8884.
  • 3. De P, Chakravarty S, Chakravarty A. Novel balanced chromosomal translocations in females with recurrent spontaneous abortions: two case studies. J Hum Reprod Sci. 2015; 8(2): 114-7.
  • 4. Utami KH, Hillmer AM, Aksoy I, Chew EG, Teo AS, Zhang Z, et al. Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders. PLoS One. 2014; 9(6): e90852.
  • 5. Zhang H, Wang R, Li L, Jiang Y, Zhang H, Liu R. Clinical feature of infertile men carrying balanced translocations involving chromosome 10: case series and a review of the literature. Medicine (Baltimore). 2018; 97(15): e0452.
  • 6. Paoloni-Giacobino A, Kern I, Rumpler Y, Djlelati R, Morris MA, Dahoun SP. Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility. Clin Genet. 2000; 58(4): 324-8.
  • 7. Berner AL, Bağci S, Wohlleber E, Engels E, Müller A, Bartmann P, et al. Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature. Cytogenet Genome Res. 2012; 136(4): 308-13.
  • 8. Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A. Role of genetics in azoospermia. Urology. 2011; 77(3): 598-601.
  • 9. Jiang T, Wang Y, Zhu M, Wang Y, Huang M, Jin G, et al. Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese population. Fertil Steril. 2017; 108(6): 1056- 62.e4.
  • 10. Sujit KM, Sarkar S, Singh V, Pandey R, Agrawal NK, Trivedi S, et al. Genome-wide differential methylation analyses identifies methylation signatures of male infertility. Hum Reprod. 2018; 33(12): 2256-67.
  • 11. Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, et al. Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. Am J Hum Genet. 2013; 92(5): 760-6.
  • 12. Truong BN, Moses EK, Armes JE, Venter DJ, Baker HW. Searching for candidate genes for male infertility. Asian J Androl. 2003; 5(2): 137-47.
  • 13. Wang RX, Zhang HG, Pan Y, Chen S, Yue FG, Zhu DL, et al. Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling. Genet Mol Res. 2016; 15(4): 1-7. doi: 10.4238/gmr.15048707.
  • 14. Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, et al. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet. 2014; 51(4): 264-7.
  • 15. Dong Z, Wang H, Chen H, Jiang H, Yuan J, Yang Z, et al. Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med. 2017; 20(7): 697-707.
There are 15 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Case Reports
Authors

Murat Kaya 0000-0003-2241-7088

Gülçin Bağatır Ozan This is me 0000-0002-4685-6686

Kıvanç Çefle 0000-0002-9420-4543

Şükrü Öztürk This is me 0000-0002-8809-7462

Şükrü Palanduz 0000-0002-9435-009X

Publication Date January 31, 2020
Submission Date April 19, 2019
Published in Issue Year 2020 Volume: 10 Issue: 1

Cite

APA Kaya, M., Bağatır Ozan, G., Çefle, K., Öztürk, Ş., et al. (2020). De novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite ile İlişkisi. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, 10(1), 108-110. https://doi.org/10.33631/duzcesbed.556258
AMA Kaya M, Bağatır Ozan G, Çefle K, Öztürk Ş, Palanduz Ş. De novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite ile İlişkisi. J DU Health Sci Inst. January 2020;10(1):108-110. doi:10.33631/duzcesbed.556258
Chicago Kaya, Murat, Gülçin Bağatır Ozan, Kıvanç Çefle, Şükrü Öztürk, and Şükrü Palanduz. “De Novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite Ile İlişkisi”. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi 10, no. 1 (January 2020): 108-10. https://doi.org/10.33631/duzcesbed.556258.
EndNote Kaya M, Bağatır Ozan G, Çefle K, Öztürk Ş, Palanduz Ş (January 1, 2020) De novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite ile İlişkisi. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi 10 1 108–110.
IEEE M. Kaya, G. Bağatır Ozan, K. Çefle, Ş. Öztürk, and Ş. Palanduz, “De novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite ile İlişkisi”, J DU Health Sci Inst, vol. 10, no. 1, pp. 108–110, 2020, doi: 10.33631/duzcesbed.556258.
ISNAD Kaya, Murat et al. “De Novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite Ile İlişkisi”. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi 10/1 (January 2020), 108-110. https://doi.org/10.33631/duzcesbed.556258.
JAMA Kaya M, Bağatır Ozan G, Çefle K, Öztürk Ş, Palanduz Ş. De novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite ile İlişkisi. J DU Health Sci Inst. 2020;10:108–110.
MLA Kaya, Murat et al. “De Novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite Ile İlişkisi”. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, vol. 10, no. 1, 2020, pp. 108-10, doi:10.33631/duzcesbed.556258.
Vancouver Kaya M, Bağatır Ozan G, Çefle K, Öztürk Ş, Palanduz Ş. De novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite ile İlişkisi. J DU Health Sci Inst. 2020;10(1):108-10.