A 15;15 Translocation in a couple with Repeated Abortions: Case report

Ahmadi shadmehri, Aazam; Tavakkoly Bazzaz, Javad; Darbouy, Mojtaba; Tabatabaiefar, Mohammad Amin

Volume 6, Issue 1 (January 2020) Journal of Research in Applied and Basic Medical Sciences 2020, 6(1): 14-17 | Back to browse issues page

Mendeley

Zotero

RefWorks

Ahmadi shadmehri A, Tavakkoly Bazzaz J, Darbouy M, Tabatabaiefar M A. A 15;15 Translocation in a couple with Repeated Abortions: Case report. Journal of Research in Applied and Basic Medical Sciences 2020; 6 (1) :14-17
URL: http://ijrabms.umsu.ac.ir/article-1-92-en.html

A 15;15 Translocation in a couple with Repeated Abortions: Case report

Aazam Ahmadi shadmehri

, Javad Tavakkoly Bazzaz

, Mojtaba Darbouy

, Mohammad Amin Tabatabaiefar ^*

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran 5 Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non‐Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran , mamintab@yahoo.co.uk

Abstract: (2889 Views)

Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. Robertsonian translocations are present in 0.1% of the general population and 1% of the infertile population. Two types of Robertsonian translocations occur more frequently than all others, being 45,XX,rob(13;14)(q10;q10) and 45,XX,rob(14;21)(q10;q10) respectively. The history of repeated abortions could be the outcome of unbalanced gametes (either monosomy or trisomy) resulting during the meiotic segregation of the balanced heterozygote female carrier.
In the present report, uncommon Robertsonian translocation in a couple with spontaneous repeated abortions is reported. Cytogenetic analysis of a couple revealed the presence of 45, XY, t (15; 15) (10q; 10q) chromosomal constitution in the male partner.
The cytogenetic analysis of couples with repeated abortions is obligatory to identify any probable chromosomal aberrations. As far as we know this is the first instance reported in Iran.

Keywords: Carrier, Chromosomal rearrangements, Robertsonian translocations, Abortion

Full-Text [PDF 881 kb] (1764 Downloads)

Type of Study: case report | Subject: Special

References

1. Hartl DL. Variation in chromosomal number and structure. In: Hartl DL, Jones EW, editors. Genetics: Principle and Analysis. 4th ed. Canada: Jones & Bartlett; 1998. P. 293-6.

2. Celep E, Karaguzel A, Ozeren M, Bozkaya H. The frequency of chromosomal abnormalities in patients with reproductive failure. Eur J Obst Gyn Reprod Biol 2006;127: 106-9. [DOI:10.1016/j.ejogrb.2005.12.019] [PMID]

3. Sullivan AE, Silver RM, LaCoursiere DY. Recurrent fetal aneuploidy and recurrent miscarriage. Obstet Gynaecol 2004;104: 784-8. [DOI:10.1097/01.AOG.0000137832.86727.e2] [PMID]

4. Krof BR. Chromosomal abnormalities. In: Krof BR. Human Genetics. 3rd ed. Boston: Blackwell Science; 1996. P.186-7.

5. Bolger GB, Stamberg J, Kirsch IR. Chromosomal translocation t(14,22) and oncogene (C-sis) variant in pedigree with familial meningioma. N Engl J Med 1985; 312: 564-7. [DOI:10.1056/NEJM198502283120907] [PMID]

6. Nielsen J, Wohlect M. Chromosome abnormalities found among 34, 910 newborn children: Results from a 13 year incidence study in Arhus Denmark. Hum Genet 1991; 87: 81-3. [DOI:10.1007/BF01213097] [PMID]

7. Jacobs PA. Mutation rates of structural chromosome rearrangements in man. Am J Hum Genet 1981;33: 44-54. [Pub Med]

8. Scriven PN, Flinter FA, Braude PR, Ogilvie CM. Robertsonian translocations reproductive risks and indications for preimplantation genetic diagnosis. Hum Reprod 2001;16(11):2267-73. [DOI:10.1093/humrep/16.11.2267] [PMID]

9. Morgan R, Bixeman H, Hetch F. Human chromosome variation with two Robertsonian translocations. Hum Genet 1985; 69: 178-80. [DOI:10.1007/BF00293293] [PMID]

10. Choo KH, Earle E, McQuillan CA. Homologous subfamily of satellite DNA on human chromosomes 14 and 22. N A Research 1990; 18: 5641-8. [DOI:10.1093/nar/18.19.5641] [PMID] [PMCID]

11. Pellestor F. Analysis of meiotic segregation in a man heterozygous for a 13:15 Robertsonian translocation and a review of literature. Hum Genet 1990;85: 49-54. [DOI:10.1007/BF00276325] [PMID]

12. Guichaona MR, Quack B, Speed RM, Noel B, Chandly AC. Infertility in human males with autosomal translocations; mitotic study of a 14,22 Robertsonian translocation. Human Genet 1990;186: 162-6. [DOI:10.1007/BF00197698] [PMID]

13. Rubes J, Machatkova M, Zudiva D. A potential relation between the 16;20 and 14;20 Robertsonian translocation and low in-vitro embryo development. J Theriogenology 1999; 52: 171-80. [DOI:10.1016/S0093-691X(99)00119-3]

14. Zizka J, Balicek P, Finkova A. Translocation D/D involving two homologous chromosomes of the pair 15. Hum Genet 1977;36:123-5. [DOI:10.1007/BF00390444] [PMID]

15. Caspersson T, Hulten M, Lindsten J, Therkelsen AJ, Zech L. Identification of different Robertsonian translocations in man by quinacrine mustard fluorescence analysis. Hereditas 1971;67:213-20. [DOI:10.1111/j.1601-5223.1971.tb02375.x] [PMID]

16. Garcia - Enguidanrs A, Calle ME, Valero J, Luna S, Dominguez-Rojas V. Risk factors in miscarriage a review. Eur J Obstet Gynecol Reprod Biol 2002;102: 111-9. [DOI:10.1016/S0301-2115(01)00613-3]

17. Venkatesh W, Ashrafunnisa B, Srilekha1 M. Sujatha1 P N, Jyothy A. A 21/22 Translocation in a Female with Repeated Abortions: A Case Report A. Int J Hum Genet 2010;10(1-3): 179-81. [DOI:10.1080/09723757.2010.11886103]

18. Kim S, Shaffer CG. Robertsonian translocations: mechanisms of formation, aneuploidy and uniparental disomy and diagnostic considerations. Genet Test 2002; 6: 163-8. [DOI:10.1089/109065702761403315] [PMID]

19. Guanti G. A new case of rearrangement of chromosome 15 associated with Prader-Willi syndrome. Clin Genet 1980;17:423-7. [DOI:10.1111/j.1399-0004.1980.tb00174.x] [PMID]

20. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 1981; 304:325-9. [DOI:10.1056/NEJM198102053040604] [PMID]

21. Gilgenkrantz S. Robertsonian translocations and abnormal phenotypes. Ann Genet 1989; 32,1:5-9. [Pub Med]

22. Neri G, Ricci R, Pelino A, Bova R, Tedeschi B, Serra A. A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings. Am J Med Genet 1983; 14:307-14. [DOI:10.1002/ajmg.1320140211] [PMID]

23. Cheung SW, Shaffer LG, Richards CS, Page SL, Riconda DL. Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15. Am J Med Genet 1997; 72:47-50. https://doi.org/10.1002/(SICI)1096-8628(19971003)72:1<47::AID-AJMG10>3.0.CO;2-U [DOI:10.1002/(SICI)1096-8628(19971003)72:13.0.CO;2-U]

24. Wolff DJ, Schwartz S. Characterization of Robertsonian translocations by using fluorescence in situ hybridization. Am J Hum Genet 1992; 50:174-81. [Pub Med]