Conference Paper
Year 2012,
Volume: 29 Issue: 4, 312 - 314, 27.12.2012
Abstract
References
- Barber, J.C., Cockwell, A.E., Grant, E., Williams, S., Dunn, R., Ogilvie, C.M., 2010. Is karyotyping couples experiencing recurrent miscarriage worth the cost? B.J.O.G. 117, 885-888.
- Benzacken, B., Carbillon, L., Dupont, C., Siffroi, J.P., Monier-Gavelle, F., Bucourt, M., Uzan, M., Wolf, J.P., 2002. Lack of submicroscopic rearrangements involving telomers in reproductive failures. Hum. Reprod. 17, 1154-11.
- Bruno, D.L., Burgess, T., Ren, H., Nouri, S., Pertile, M.D., Francis, D.I., Norris, F., Kenney, B.K., Schouten, J., Choo, K.H.A., Slater, H.R., 2006. High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. Am. J. Med. Genet. 140A, 2786-2793.
- Kulkarni, S., Reiter, A., Smedley, D., Goldman, J.M., Cross, N.C., 1999. The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome. Genomics. 55, 118-121.
- Kyle, A.F., Chow, V., Ma, S., 2008. Silencing of meiotic chromosomes and altered recombination patterns in an azospermic carrier of a t(8;13) reciprocal translocation. Hum. Reprod. 23, 988-995.
- Monfort, S., Martinez, F., Rosello, M., Badia, L., Prieto, F., Orellana, C., 2006. A subtelomeric translocation apparently implied in multiple abortions. J. Assist. Reprod. Gen. 23, 97-101.
- Qian, W.P., Tan, Y.M., Song, D., Tan, Y.Q., Lu, G.X., 2005. Cytogenetic study of 1780 cases of spontaneous abortion. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 30, 258-260.
- Sahin, F., Sercan, Z., Ertan, Y., Ocakci, S., Ay, E., Vural, F., Yüksel, E., Tombuloglu, M., Saydam, G., 2007. Rapid transformation of atypical myeloproliferative disorder with consistent t(8;13) to B-cell acute lymphoblastic leukemia: A case report. Hematology. 12, 489-492.
- Shaffer, L. G., Tommerup, N., 2005. An internatıonal system for human cytogenetic nomenclature (ISCN), S. Karger Publishers, Basel.
- Stephenson, M.D., Sierre, S., 2006. Reproductive outcomes in recurrent pregnancy loss associated with aparental carrier of a structural chromosome rearrangement. Hum. Reprod. 21, 1076-1082.
- Sugiura-Ogasawara, M., Suzumori, K., 2005. Can preimplantation genetic diagnosis improve success rates in recurrent aborters with translocations? Hum. Reprod. 20, 3267-3270.
- Suzan, F., Guasch, G., Terre, C., Garcia, I., Bastie, J.N., Maarek, O., Ribaud, P., Gluckman, E., Daniel, M.T., Pebusque, M.J., Castaigne, S., 2003. Long-term complete haematological and molecular remission after allogenic bone marrow transplantation in a patient with a stem cell myleproliferative disorder asseciated with t(8;13)(p12;q12). Brit. J. Haematol. 121, 312-314.
- Suzumori, N., Sugiura-Ogasawara, M., 2010. Genetic factors as a cause of miscarriage. Curr. Med. Chem. 17, 3431-3437.
- Tunç, E., Demirhan, O., Demir, C., Tastemir, D., 2007. Cytogenetic study of recurrent miscarriages and their parents. Genetika. 43, 545-552.
- Vega, F., Medeiros, L.J., Davuluri, R., Cromwell, C.C., Alkan, S., Abruzzo, L.V., 2008. t(8;13)-positive bilineal lymphomas: Report of 6 cases. Am. J. Surg. Pathol. 32, 14-20
- Zarina, A.L., Jamil, M.A., Ng, S.P., Rohanna, J., Yong, S. C., Salwati, S., Boo, N.Y., 2006. Unbalanced chromosomal translocation: A cause of recurrent spontaneus abortion. Med. J. Malaysia. 61, 260-262.
- Zhang, Y.P., Xu, J.Z., Yin, M., Chen, M. F., Ren, D.L., 2006. Pregnancy outcomes of 194 couples with balanced translocations. Zhonghua Fu Chan Ke Za Zhi. 41, 592-596.
Year 2012,
Volume: 29 Issue: 4, 312 - 314, 27.12.2012
Abstract
Bu çalışma ile ailesinde düşük öyküsü bulunmayan, 6 kez düşük yapıp, sitogenetik analiz amacıyla laboratuvara başvuran bir kadın olguda saptanan de novo t(8;13)(p12;q14) dengeli resiprokal translokasyon ile habituel abortus arasındaki ilişki değerlendirildi. Olgunun aile öyküsünün alınmasının ardından, periferik kan kültür metodu ile olgu ve aile bireylerinden elde edilen preparatlar, Giemsa-Trypsin (GTG) bantlama metodu ile boyanarak değerlendirildi. Habituel abortus tanısı ile laboratuvara başvuran olgunun altı hamileliği de gelişim yetersizliği nedeniyle iki aylıkken medikal müdahale ile sonlandırılmıştı. Klinik incelemeler; olgunun fenotipik olarak normal olduğunu, sitogenetik incelemeler ise olgunun 46,XX, t(8;13)(p12;q14) resiprokal translokasyon taşıyıcısı olduğunu gösterdi. Olgunun eşi, annesi, babası ve dört kardeşinde yapılan sitogenetik analizlerden; tüm bireylerin normal karyotipe sahip oldukları görüldü. Sonuç
olarak, bu dengeli resiprokal trasnlokasyonun bilinmeyen de novo mekanizmalar sonucu ortaya çıktığı kanaatine varıldı. Bu çalışmada, de novo dengeli bir resiprokal translokasyon taşıyan olgunun düşükleri ve olguda saptanan klinik bulgular arasındaki ilişki tartışıldı.
Keywords
References
- Barber, J.C., Cockwell, A.E., Grant, E., Williams, S., Dunn, R., Ogilvie, C.M., 2010. Is karyotyping couples experiencing recurrent miscarriage worth the cost? B.J.O.G. 117, 885-888.
- Benzacken, B., Carbillon, L., Dupont, C., Siffroi, J.P., Monier-Gavelle, F., Bucourt, M., Uzan, M., Wolf, J.P., 2002. Lack of submicroscopic rearrangements involving telomers in reproductive failures. Hum. Reprod. 17, 1154-11.
- Bruno, D.L., Burgess, T., Ren, H., Nouri, S., Pertile, M.D., Francis, D.I., Norris, F., Kenney, B.K., Schouten, J., Choo, K.H.A., Slater, H.R., 2006. High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. Am. J. Med. Genet. 140A, 2786-2793.
- Kulkarni, S., Reiter, A., Smedley, D., Goldman, J.M., Cross, N.C., 1999. The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome. Genomics. 55, 118-121.
- Kyle, A.F., Chow, V., Ma, S., 2008. Silencing of meiotic chromosomes and altered recombination patterns in an azospermic carrier of a t(8;13) reciprocal translocation. Hum. Reprod. 23, 988-995.
- Monfort, S., Martinez, F., Rosello, M., Badia, L., Prieto, F., Orellana, C., 2006. A subtelomeric translocation apparently implied in multiple abortions. J. Assist. Reprod. Gen. 23, 97-101.
- Qian, W.P., Tan, Y.M., Song, D., Tan, Y.Q., Lu, G.X., 2005. Cytogenetic study of 1780 cases of spontaneous abortion. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 30, 258-260.
- Sahin, F., Sercan, Z., Ertan, Y., Ocakci, S., Ay, E., Vural, F., Yüksel, E., Tombuloglu, M., Saydam, G., 2007. Rapid transformation of atypical myeloproliferative disorder with consistent t(8;13) to B-cell acute lymphoblastic leukemia: A case report. Hematology. 12, 489-492.
- Shaffer, L. G., Tommerup, N., 2005. An internatıonal system for human cytogenetic nomenclature (ISCN), S. Karger Publishers, Basel.
- Stephenson, M.D., Sierre, S., 2006. Reproductive outcomes in recurrent pregnancy loss associated with aparental carrier of a structural chromosome rearrangement. Hum. Reprod. 21, 1076-1082.
- Sugiura-Ogasawara, M., Suzumori, K., 2005. Can preimplantation genetic diagnosis improve success rates in recurrent aborters with translocations? Hum. Reprod. 20, 3267-3270.
- Suzan, F., Guasch, G., Terre, C., Garcia, I., Bastie, J.N., Maarek, O., Ribaud, P., Gluckman, E., Daniel, M.T., Pebusque, M.J., Castaigne, S., 2003. Long-term complete haematological and molecular remission after allogenic bone marrow transplantation in a patient with a stem cell myleproliferative disorder asseciated with t(8;13)(p12;q12). Brit. J. Haematol. 121, 312-314.
- Suzumori, N., Sugiura-Ogasawara, M., 2010. Genetic factors as a cause of miscarriage. Curr. Med. Chem. 17, 3431-3437.
- Tunç, E., Demirhan, O., Demir, C., Tastemir, D., 2007. Cytogenetic study of recurrent miscarriages and their parents. Genetika. 43, 545-552.
- Vega, F., Medeiros, L.J., Davuluri, R., Cromwell, C.C., Alkan, S., Abruzzo, L.V., 2008. t(8;13)-positive bilineal lymphomas: Report of 6 cases. Am. J. Surg. Pathol. 32, 14-20
- Zarina, A.L., Jamil, M.A., Ng, S.P., Rohanna, J., Yong, S. C., Salwati, S., Boo, N.Y., 2006. Unbalanced chromosomal translocation: A cause of recurrent spontaneus abortion. Med. J. Malaysia. 61, 260-262.
- Zhang, Y.P., Xu, J.Z., Yin, M., Chen, M. F., Ren, D.L., 2006. Pregnancy outcomes of 194 couples with balanced translocations. Zhonghua Fu Chan Ke Za Zhi. 41, 592-596.
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Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Basic Medical Sciences |
| Authors | |
| Publication Date | December 27, 2012 |
| Submission Date | February 10, 2011 |
| Published in Issue | Year 2012 Volume: 29 Issue: 4 |
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