A FETUS WITH t(5;8)(q33,2;q22,2) KARYOTYPE

Abstract

We discussed a fetus with t(5;8)(q33,2;q22,2) balanced reciprocal translocation whose mother referred to the laboratory due to advanced maternal age. Was After assessing the case’s pedigree, the preparations obtained from case and relatives using peripheric blood culture method were evaluated with GTG banding. Cytogenetic analysis of fetus, showed a balanced reciprocal translocation 46,XY, t(5;8)(q33,2;q22,2). Cytogenetic analyses of father, mother and two siblings revealed that the karyotypes of them were normal. We suggested that this balanced reciprocal translocation may be the result of an error of DNA repair mechanisms that may be associated with advanced maternal age. We discussed cytogenetic features of the fetus in the guide of literature

Keywords

• Maternal age
• prenatal diagnosis
• chromosomal translocation

46, XY, t(5;8) (q33,2;q22,2) KARYOTİPLİ BİR FETÜS

Abstract

Bu çalışmada; ileri anne yaşı nedeniyle prenatal tanı amacıyla laboratuvara refere edilen bir kadın olgunun, de novo t(5;8)(q33,2;q22,2) dengeli resiprokal translokasyon taşıyıcısı fetüsünü tartıştık.Olgunun aile öyküsünün değerlendirilmesinin ardından, periferik kan kültürü metodu kullanarak olgu ve aile bireylerinden elde edilen preparatlar GTG bantlama yöntemiyle değerlendirildi.İleri anne yaşı nedeniyle prenatal tanı amacıyla laboratuvara refere edilen kadın olgunun fetüs’ünden yapılan sitogenetik analizler sonucunda, fetüs’ün dengeli resiprokal translokasyon taşıyıcısı olduğu görüldü. Fetüs’ün annesi, babası ve iki kardeşinde yapılan analizlerde; aile bireylerinin normal karyotiplere sahip oldukları görüldü.Saptanan dengeli resiprokal translokasyonun anne yaşı ile ilişkili olarak DNA tamir mekanizmalarında oluşan hata nedeniyle ortaya çıktığı kanaatine varıldı. Bu çalışmada, fetüs’ün genetik özelliklerini literatür ışığında tartıştık.

Keywords

• Anne yaşı
• prenatal tanı
• kromozomal translokasyon

References

1. Chen CP, Wu PC, Lin CJ, Chern SR, Tsai FJ, Lee CC, Town DD, Chen WL, Chen LF, Lee MS, Pan CW, Wang W. amniocentesis. Taiwanase Jour Of Obstet&Gyn 50;48-57, 2011. translocations at
2. Chen CP, Wu PC, Lin CJ, Su YN, Chern SR, Tsai FJ, Lee CC, Town DD, Chen WL, Chen LF, Lee MS, Pan CW, Wang W.Balanced reciprocal translocations detected at amniocentesis. Taiwanase Jour. Of Obstet&Gyn 49: 455- 467, 2010.
3. Cromie GA, Connelly JC, Leach DR. Recombination at double-strand breaks and DNA ends: conserved mechanisms from phage to humans. Mol Cell 8: 1163- 1174, 2001.
4. De Braekeleer M, Dao TN. Cytogenetic studies in male infertility: a review. Hum Reprod 6: 245-250, 1991.
5. Etem E, Yüce H. 46,XY,t(1;12)(p34.1;q24.3) Karyotipli Fetüsün Prenatal Tanısı ve Genetik Danışmanlığı. F.Üniv. Sağlık Bil. Dergisi 22:65-68, 2008.
6. Erol D, Yüce H. 2;9 Translokasyonu taşıyan bir olgu sunumu. Fırat Tıp Dergisi 14:132-133, 2009.
7. Gajecka M, Pavlicek A, Glotzbach CD, Ballif BC, Jarmuz M, Jurka J, Shaffer LG. Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations. Hum Genet 120: 519-526, 2006.
8. Imaizumi K, Kimura J, Matsuo M, Kurosawa K, Masuno M, Niikawa N, Kuroki Y.Sotos syndrome associated with a t(5;8)(q38;q24.1). Am. Journal of Human Genet 107:58- 60, 2002.

9. Kayhan G, Ergün, MA, Asyalı Biri A, Yirmibeş Karaoğuz M. Annenin dengeli 8;9 translokasyonu sonucu oluşan prenatal tanısı tersiyer trizomi. J Turkish German Gynecol Assoc 12:183-185, 2011.
10. Khanna KK and Jackson SP. DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet 2001: 27: 247–254.
11. Khanna KK and Jackson SP. DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet 27: 247–254,2001.
12. Kurahashi H, Bolor H, Kato T, Kogo H, Tsutsumi M, Inagaki H, Ohye T.Recent advance in our understanding chromosomal abnormalities. J Hum Genet 54: 253– 260,2009. molecular nature of
13. Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS. The constitutional t(11;22): İmplications for a novel mechanism responsible for gross chromosomal rearrangements. Clinical Genetics 78: 229-309,2000.
14. Lieber MR, Ma Y, Pannicke U.Mechanism and regulation of human non-homologous DNA end- joining. Nat Rev Mol Cell Biol 4: 712–720,2003.
15. Noguchi E, Yokouchi Y, Zhang J, Shibuya K, Shibuya A, Bannai M, Tokunaga K, Doi H, Tamari M, Shimizu M, Shirakawa T, Shibasaki M, Ichikawa K, Arinami T.Positional identification of an asthma susceptibility gene on human chromosome 5q33. Am Jour Resp and Crit Care Med 172:183-188, 2005.
16. Türkyılmaz A, Oral D, Şimşek S, Budak T. De novo dengeli 18pter delesyonlu olgu sunumu. Dicle Tıp Dergisi 36: 316-318, 2009.
17. Tseng JJ, Chou MM, Lo FC, Lai HY, Chen MH, Ho ESC. Detection of chromosome aberrations in the second amniocentesis:Experience Taiwanase. J Obstet&Gyn 45:39-41, 2006. during 1995-2004.
18. Ogilvie CM, Braude P, Scriven PN. Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations. Hum Fertil (Camb) 4:168-171, 2001.
19. Wiland E, Hobel CJ, Hill D, Kurpisz M. Successful pregnancy after preimplantation genetic diagnosis for carrier of t(2;7)(p11.2;q22) with high rates of unbalanced sperm and embryos: a case report. Prenat Diagn 28:36-41, 2008
20. van Gent DC, Hoeijmakers JH, Kanaar R. Chromosomal stability and the DNA double-stranded break connection. Nat Rev Genet 2: 196–206, 2001.
21. Karaoguz MY, Bal F, Yakut T, Ercelen NO, Ergun MA, Gokcen AB, Biri AA, Kimya Y, Urman B, Gultomruk M, Egeli U, Menevse S. Cytogenetic results of amniocentesis materials: incidence of abnormal karyotypes in the Turkish collaborative study. Genet Counsel 17: 219-230, 2006.
22. Zhang L, Tümer Z, Mİllgård K, Barbi G, Rossier E, Bendsen E, Mİller RS, Ullmann R, He J, Papadopoulos LA.Characterization translocation in a patient with mental retardation and congenital involvement of RVNX1T1 in human brain and heart development. European Journal of Human Genetics 17:1010-1018, 2009. Tommerup of a
23. t(5;8)(q31;q21) heart disease: implications for