Volume 22, Issue 1 (Iranian South Medical Journal 2019)                   Iran South Med J 2019, 22(1): 54-61 | Back to browse issues page


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Farzaneh M, Hasanpour M, Daghbashi M, Mohammadi Baghmollaei E. A Case Report of a Novel Balanced Reciprocal Translocation t(2;14)(q11;q24) in a Young Woman with Two Pregnancy Losses. Iran South Med J 2019; 22 (1) :54-61
URL: http://ismj.bpums.ac.ir/article-1-1048-en.html
1- Department of Pathology, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran
2- Department of Molecular Pathology and Cytogenetics, Mehr Laboratory, Boushehr, Iran
3- School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran
4- Department of Molecular Pathology and Cytogenetics, Mehr Laboratory, Boushehr, Iran , e.mohammadi_b@yahoo.com
Abstract:   (3685 Views)
Reciprocal chromosome translocations, especially balanced rearrangements are known to be one of the main causes of recurrent miscarriage. In this case report, we performed the clinical and cytogenetic analysis on a young couple with two pregnancy losses. Though the couple had a normal clinical study, the cytogenetic analysis revealed a balanced reciprocal translocation of t(2;14)(q11;q24) whereas the husband has a normal karyotype of 46,XY. Indeed based on the literature, this is the first report of t(2;14)(q11;q24) related to pregnancy loss. Therefore, cytogenetic tests are recommended for couples with a history of miscarriage more than twice.
Full-Text [PDF 411 kb]   (4025 Downloads)    
Type of Study: Original | Subject: Gynecology
Received: 2018/04/21 | Accepted: 2018/11/12 | Published: 2019/04/7

References
1. Shah K, Bhat P, Bhat R., et al. An update on recurrent early pregnancy loss: Causes, controversies and cure. JCDR 2018;12(10):1-5 [DOI:10.7860/JCDR/2018/36703.12078]
2. Hyde KJ, Schust DJ. Genetic considerations in recurrent pregnancy loss. CSH PERSPECT MED 2015;5(3):a023119. [DOI:10.1101/cshperspect.a023119]
3. Janani PR, Murugan A, Santhiya ST. Chromosomes Abnormalities Among Recurrent Spontaneous Abortions Cases. BPJ 2016;9(1):349-56. [DOI:10.13005/bpj/946]
4. Ananthapur V, Avvari S, Cingeetham V, et al. A novel chromosomal translocation and heteromorphism in a female with recurrent pregnancy loss-a case study. JARG 2012;29(7):651-6. [DOI:10.1007/s10815-012-9756-4]
5. Houmaid H, El Bekkay C, Nassereddine S, et al. Chromosomal Abnormalities in 238 Couples with Recurrent Miscarriages in Morocco. OJGen 2018;8(2):15-22. [DOI:10.4236/ojgen.2018.82002]
6. Practice Committee of the American Society for Reproductive Medicine. Evaluation and treatment of recurrent pregnancy loss: A committee opinion. Fertil Steril 2012; 98(5): 1103-11. [DOI:10.1016/j.fertnstert.2012.06.048]
7. Kacprzak M, Chrzanowska M, Skoczylas B, et al. Genetic causes of recurrent miscarriages. Ginekol Pol 2016 ;87: 722-6. [DOI:10.5603/GP.2016.0075]
8. El Hachem H, Crepaux V, May-Panloup P, et al. Recurrent pregnancy loss: current perspectives. Int J Womens Health 2017;9: 331-45. [DOI:10.2147/IJWH.S100817]
9. de Krom G, Arens YH, Coonen E, et al. Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. Hum Reprod 2015;30(2):484-9. [DOI:10.1093/humrep/deu314]
10. Ashaat N, Husseiny A. Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7. Iran J Reprod Med 2012;10(1):15-22.
11. Posam PG, Sabnis AS. A case report on unique combination of balanced reciprocal translocation in a couple. wipps 2018;7(5):790-5.
12. 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. [DOI:10.4103/0974-1208.158623]
13. Keify F, Zhiyan N, Mirzaei F, et al. Two novel familial balanced translocations t(8;11)(p23;q21) and t(6;16)(q26;p12) implicated in recurrent spontaneous abortion. Arch Iran Med 2012;15(4):249-52.
14. Morin SJ, Eccles J, Iturriaga A, et al. Translocations, inversions and other chromosome rearrangements. Fertil Steril 2017;107(1):19-26. [DOI:10.1016/j.fertnstert.2016.10.013]
15. Torkildsen S, Gorunova L, Beiske K, et al. Novel ZEB2-BCL11B Fusion Gene Identified by RNA-Sequencing in Acute Myeloid Leukemia with t(2;14)(q22;q32). PloS one 2015;10(7):e0132736. [DOI:10.1371/journal.pone.0132736]
16. Subramaniyam S, Geyer JT, Liu YC, et al. A translocation t(2;14)(p11.2;q32) involving rearrangements of immunoglobulin heavy chain and kappa light chain genes in B-cell lymphoma. Leuk Lymphoma 2015;56(10):2992-4. [DOI:10.3109/10428194.2015.1018249]
17. Moross T, Vaithilingam S, Styles S, et al. Autosomal dominant anterior polar cataracts associated with a familial 2; 14 translocation. J Med Genet 1984;21(1):52-3. [DOI:10.1136/jmg.21.1.52]
18. Gada Saxena S, Desai K, Shewale L, et al. Chromosomal aberrations in 2000 couples of Indian ethnicity with reproductive failure. Reprod Biomed Online 2012; 25:209-18. [DOI:10.1016/j.rbmo.2012.04.004]
19. Kochhar PK, Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J Obstet Gynaecol Res 2013; 39(1):113-20 [DOI:10.1111/j.1447-0756.2012.01905.x]
20. Ikuma S, Sato T, Sugiura-Ogasawara M, et al. Preimplantation Genetic Diagnosis and Natural Conception: A Comparison of Live Birth Rates in Patients with Recurrent Pregnancy Loss Associated with Translocation. PloS one 2015;10(6):e0129958. [DOI:10.1371/journal.pone.0129958]
21. Tunç E, Tanrıverdi N, Demirhan O, et al. Chromosomal analyses of 1510 couples who have experienced recurrent spontaneous abortions. Reprod Biomed Online 2016; 32(4):414-19. [DOI:10.1016/j.rbmo.2016.01.006]
22. Chopade D, Gangane S, Chopade S, et al. Reproductive Outcomes in 101 Couples with Balanced Chromosomal Rearrangements. Human Genet Embryol 2018; 8(2): 150. [DOI:10.4172/2161-0436.1000150]
23. Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod 2006; 21(4):1076-82. [DOI:10.1093/humrep/dei417]
24. Bourrouillou G, Mansat A, Calvas P, et al. Chromosome anomalies and male infertility. A study of 1444 subjects. Bulletin de l'Association des anatomistes 1987; 71(215): 29-31.
25. Karakus N, Kara N, Tural S, et al. A retrospective study of balanced chromosomal translocations in a Turkish population. Int J Hum Genet 2012;12(4):319-23. [DOI:10.1080/09723757.2012.11886186]
26. Ghazaey S, Keify F, Mirzaei F, et al. Chromosomal analysis of couples with repeated spontaneous abortions in northeastern iran. Int J Fertil Steril 2015; (1):47-54.
27. Arumugam B, Samuel CR, Thyagarajan SS. Balanced Autosomal Translocations in Two Women Reporting Recurrent Miscarriage. JCDR 2016; 10(12): GD01-GD03. [DOI:10.7860/JCDR/2016/23828.9075]
28. Niroumanesh S, Mehdipour P, Farajpour A, et al. A cytogenetic study of couples with repeated spontaneous abortions. Ann Saudi Med 2011;31(1): 77-9. [DOI:10.4103/0256-4947.75785]
29. Pourjafari B, Pour-Jafari H, Farimani M, et al. Genetic counseling in carriers of reciprocal translocations involving two autosomes. Indian J Hum Genet 2012; 18(2): 250-53. [DOI:10.4103/0971-6866.100802]
30. Sheth FJ, Liehr T, Kumari P, et al. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study. Indian J Hum Genet 2013;19(4): 415-22. [DOI:10.4103/0971-6866.124369]
31. Ocak Z, Özlü T, Ozyurt O. Association of recurrent pregnancy loss with chromosomal abnormalities and hereditary thrombophilias. African health sciences 2013;13(2):447-52. [DOI:10.4314/ahs.v13i2.35]
32. Leelavathy N, Sayee R. Parents with translocation and the outcome in their off springs. IOSR-JDMS 2016; 15(6): 76-83.
33. Houmaid H, El Bekkay C, Nassereddine S, et al. Chromosomal Abnormalities in 238 Couples with Recurrent Miscarriages in Morocco. OJGen 2018; 8(2): 15-22. [DOI:10.4236/ojgen.2018.82002]
34. Turleau C, Chavin-Colin F, de Grouchy J. Cytogenetic investigation in 413 couples with spontaneous abortions. Eur J Obstet Gynecol Repod Biol 1979; 9(2): 65-74. [DOI:10.1016/0028-2243(79)90001-7]
35. Dutta UR, Rajitha P, Pidugu VK, et al. Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review. J ASSIST REPROD GEN 2011; 28(2): 145-9. [DOI:10.1007/s10815-010-9492-6]
36. Kyu Lim C, Hyun Jun J, Mi Min D, et al. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat Diagn 2004; 24(7): 556-61. [DOI:10.1002/pd.923]
37. Ayed W, Messaoudi I, Belghith Z, et al. Chromosomal abnormalities in 163 Tunisian couples with recurrent miscarriages. The Pan African medical journal 2017;28(1):99. [DOI:10.11604/pamj.2017.28.99.11879]
38. De P, Chakravarty S, Chakravarty A. Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report. Appl Med Res 2017; 3(1): 1-4. [DOI:10.5455/amr.20170121013406]
39. Zhang HG, Wang RX, Li LL, et al. Male carriers of balanced reciprocal translocations in Northeast China: sperm count, reproductive performance, and genetic counseling. Genet Mol Res 2015; 14(4):18792-8. [DOI:10.4238/2015.December.28.28]
40. Pal S, Ma SO, Norhasimah M, et al. Chromosomal abnormalities and reproductive outcome in Malaysian couples with miscarriages. Singapore Med J 2009;50(10):1008-12.

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