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Year 2012, Volume: 29 Issue: 4, 316 - 318, 27.12.2012

Mehmet Elbistan Akın Tekcan Nurten Kara İdris Koçak

https://doi.org/10.5835/jecm.omu.29.04.012

Abstract

References

  • Abuelo, D.N., Barsel-Bowers, G., Richardson, A. 1988. Insertional translocations: report of two new families and review of the literature. Am. J. Med. Genet. 31, 319-329.
  • 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.
  • Dela Fluente-Cortes, B. E., Cerda-Flores, R.M., Davila-Rodriquez, M.I., Garcia-Vielma, C., De la Alvarado, R. M., Cortez-Gutierrez, E. I., 2009. Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in Mexico. Reprod. Biomed. Online. 18, 543-548.
  • Lur’e, I.V., Gurevich, D. B., Laziuk, G. I., 1975. Genetic counseling in cases of chromosme insertions. Genetika. 11,131-136.
  • Monfort, S., Martinez, F., Rosello, M., Badia, L., Prieto, F., Orellana, C., 2006. A subtelomeric translocation apparently implied in multiple abor- tions. 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.
  • Rao, L., Murthy, K., Babu, A., Venkata, P., Deenadayal, M., Singh, L., 2005. Chromosome inversions and a novel chromosome insertion associ- ated with recurrent miscarriages in South India. Arch. Gynecol. Obstet. 272, 273-277.
  • Shaffer, L. G., Tommerup, N., 2005. An international system for human cytogenetic nomenclature (ISCN), S. Karger Publishers, Basel.
  • Sugiura-Ogasawara, M., Suzumori, K., 2005. Can preimplantation genetic diagnosis improve success rates in recurrent aborters with transloca- tions? Hum. Reprod. 20, 3267-3270.
  • Suzumori, N., Sugiura-Ogasawara, M., 2010. Genetic factors as a cause of miscarriage. Curr. Med. Chem. 17, 3431-3437.
  • Tan, Y., Lu, G., 2002. Chromosomal cryptic insertion of th terminal region and its formative mechanism determined by flurescence in situ hy- bridization. Chin. Med. J. 115, 1039-1042.
  • Tunç, E., Demirhan, O., Demir, C., Tastemir, D., 2007. Cytogenetic study of recurrent miscarriages and their parents. Genetika. 43, 545-552.
  • Van Hemmel, J.O., Eussen, H.J., 2000. Interchromosomal insertions. Hum. Genet. 107, 415-432.
  • Wang, Y.T., Bajalica, S., Han, F.Y., Wang, Z.C., Bui, T. H., Xie, Y.G., 1994. Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages. Am. J. Med. Genet. 52, 349-351.
  • 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.

İns(22;?)(pter→q11.2::?::q11.2→qter) karyotipine sahip bir olgu

Year 2012, Volume: 29 Issue: 4, 316 - 318, 27.12.2012

Mehmet Elbistan Akın Tekcan Nurten Kara İdris Koçak

https://doi.org/10.5835/jecm.omu.29.04.012

Abstract

Bu olguda aile geçmişinde düşük öyküsü olmayan, iki kez düşük yapması nedeniyle sitogenetik laboratuarına başvuran ve ailesel ins (22; ?) genotipi taşıyan kadın hasta ve ailesi değerlendirilmiş, ailesel ins (22; ?) ile tekrarlayan düşükler arasında herhangi bir ilişki olup olmadığı araştırılmıştır. Olgunun aile öyküsünün alınmasının ardından, düşük materyalinden doku kültürü metodu ile olgu ve aile bireylerinde ise periferik kan kültür metodu ile, elde edilen preparatlar, tripsin giemsa bantlama metodu ile boyanarak değerlendirildi. Tekrarlayan düşük tanısıyla laboratuvarımıza başvuran olgunun, sitogenetik analiz yapılmadan önce, tüp bebek yöntemiyle sahip olduğu iki ikiz gebeliğinin de düşükle sonuçlandığı tespit edildi. Olgunun 2. düşüğünden alınan düşük materyalinin laboratuarımıza gönderilmesi üzerine, yapılan sitogenetik analiz sonucunda, düşük materyali karyotipinin 46,XX,ins(22;?)(pter→q11.2::?::q11.2→qter) olduğu görüldü. Olgu ve aile bireylerinde yapılan sitogenetik analizler sonucunda ise olgu ve annesinin 46,XX,ins(22;?) (pter→q11.2::?::q11.2→qter) karyotipine ve olgunun eşi ile babasının da normal karyotipe sahip olduğu tespit edildi. Bu çalışmada, ins(22;?) (pter→q11.2::?::q11.2→qter) karyotipine sahip olgunun düşükleri ve klinik bulguları arasındaki ilişki tartışıldı. 

Keywords

Kromozomal yeniden düzenlenme İnsersiyon Düşük

References

  • Abuelo, D.N., Barsel-Bowers, G., Richardson, A. 1988. Insertional translocations: report of two new families and review of the literature. Am. J. Med. Genet. 31, 319-329.
  • 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.
  • Dela Fluente-Cortes, B. E., Cerda-Flores, R.M., Davila-Rodriquez, M.I., Garcia-Vielma, C., De la Alvarado, R. M., Cortez-Gutierrez, E. I., 2009. Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in Mexico. Reprod. Biomed. Online. 18, 543-548.
  • Lur’e, I.V., Gurevich, D. B., Laziuk, G. I., 1975. Genetic counseling in cases of chromosme insertions. Genetika. 11,131-136.
  • Monfort, S., Martinez, F., Rosello, M., Badia, L., Prieto, F., Orellana, C., 2006. A subtelomeric translocation apparently implied in multiple abor- tions. 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.
  • Rao, L., Murthy, K., Babu, A., Venkata, P., Deenadayal, M., Singh, L., 2005. Chromosome inversions and a novel chromosome insertion associ- ated with recurrent miscarriages in South India. Arch. Gynecol. Obstet. 272, 273-277.
  • Shaffer, L. G., Tommerup, N., 2005. An international system for human cytogenetic nomenclature (ISCN), S. Karger Publishers, Basel.
  • Sugiura-Ogasawara, M., Suzumori, K., 2005. Can preimplantation genetic diagnosis improve success rates in recurrent aborters with transloca- tions? Hum. Reprod. 20, 3267-3270.
  • Suzumori, N., Sugiura-Ogasawara, M., 2010. Genetic factors as a cause of miscarriage. Curr. Med. Chem. 17, 3431-3437.
  • Tan, Y., Lu, G., 2002. Chromosomal cryptic insertion of th terminal region and its formative mechanism determined by flurescence in situ hy- bridization. Chin. Med. J. 115, 1039-1042.
  • Tunç, E., Demirhan, O., Demir, C., Tastemir, D., 2007. Cytogenetic study of recurrent miscarriages and their parents. Genetika. 43, 545-552.
  • Van Hemmel, J.O., Eussen, H.J., 2000. Interchromosomal insertions. Hum. Genet. 107, 415-432.
  • Wang, Y.T., Bajalica, S., Han, F.Y., Wang, Z.C., Bui, T. H., Xie, Y.G., 1994. Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages. Am. J. Med. Genet. 52, 349-351.
  • 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.
There are 15 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Basic Medical Sciences
Authors

Mehmet Elbistan This is me

Akın Tekcan

Nurten Kara

İdris Koçak This is me

Publication Date December 27, 2012
Submission Date February 10, 2011
Published in Issue Year 2012 Volume: 29 Issue: 4

Cite

APA Elbistan, M., Tekcan, A., Kara, N., Koçak, İ. (2012). İns(22;?)(pter→q11.2::?::q11.2→qter) karyotipine sahip bir olgu. Journal of Experimental and Clinical Medicine, 29(4), 316-318. https://doi.org/10.5835/jecm.omu.29.04.012
AMA Elbistan M, Tekcan A, Kara N, Koçak İ. İns(22;?)(pter→q11.2::?::q11.2→qter) karyotipine sahip bir olgu. J. Exp. Clin. Med. December 2012;29(4):316-318. doi:10.5835/jecm.omu.29.04.012
Chicago Elbistan, Mehmet, Akın Tekcan, Nurten Kara, and İdris Koçak. “İns(22;?)(pter→q11.2::?::Q11.2→qter) Karyotipine Sahip Bir Olgu”. Journal of Experimental and Clinical Medicine 29, no. 4 (December 2012): 316-18. https://doi.org/10.5835/jecm.omu.29.04.012.
EndNote Elbistan M, Tekcan A, Kara N, Koçak İ (December 1, 2012) İns(22;?)(pter→q11.2::?::q11.2→qter) karyotipine sahip bir olgu. Journal of Experimental and Clinical Medicine 29 4 316–318.
IEEE M. Elbistan, A. Tekcan, N. Kara, and İ. Koçak, “İns(22;?)(pter→q11.2::?::q11.2→qter) karyotipine sahip bir olgu”, J. Exp. Clin. Med., vol. 29, no. 4, pp. 316–318, 2012, doi: 10.5835/jecm.omu.29.04.012.
ISNAD Elbistan, Mehmet et al. “İns(22;?)(pter→q11.2::?::Q11.2→qter) Karyotipine Sahip Bir Olgu”. Journal of Experimental and Clinical Medicine 29/4 (December 2012), 316-318. https://doi.org/10.5835/jecm.omu.29.04.012.
JAMA Elbistan M, Tekcan A, Kara N, Koçak İ. İns(22;?)(pter→q11.2::?::q11.2→qter) karyotipine sahip bir olgu. J. Exp. Clin. Med. 2012;29:316–318.
MLA Elbistan, Mehmet et al. “İns(22;?)(pter→q11.2::?::Q11.2→qter) Karyotipine Sahip Bir Olgu”. Journal of Experimental and Clinical Medicine, vol. 29, no. 4, 2012, pp. 316-8, doi:10.5835/jecm.omu.29.04.012.
Vancouver Elbistan M, Tekcan A, Kara N, Koçak İ. İns(22;?)(pter→q11.2::?::q11.2→qter) karyotipine sahip bir olgu. J. Exp. Clin. Med. 2012;29(4):316-8.
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