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Tekrarlayan düşükler ve dengeli translokasyon t(4;9)(q21;q13)

Year 2012, Volume: 29 Issue: 3, 221 - 223, 23.10.2012
https://doi.org/10.5835/jecm.omu.29.03.010

Abstract

Yapısal kromozom yeniden düzenlemeleri genel toplumda yaygındır. Dengeli translokasyon taşıyıcısı bireyler fenotipik olarak normaldir fakat kromozomal olarak dengesiz gamet üretme yönünden anlamlı oranda artmış riske sahiptirler. Bu nedenle, translokasyon genel nüfusa göre tekrarlayan düşük öyküsü olan çiftlerde daha yüksek bir insidans ile izlenebilir. Bu çalışmada, Kadın Hastalıkları ve Doğum Bölümü’nden laboratuarımıza yönlendirilen 8 ve 12 haftalık iki ilk trimester düşük öyküsü olan 20 yaşında bir kadın olgu sunulmaktadır. Olgumuzun yaşayan çocuğu yoktur. Olgumuzun geçmiş medikal öyküsü ve fizik muayenesi normaldir. Probandın aile hikayesinde, annesinin üç kızı ve yaşayan bir oğlu olduğu görülmüştür. Probandın kocasının 40 yaşındaki annesinin bir ölüdoğum öyküsü vardır. Olgumuzun kocası ve kocasının annesinin periferal kanından elde edilen G-bant karyotip analizinde dengeli translokasyon 46, XX, t(4;9) (q21;q13) saptanmıştır. Dengeli translokasyon taşıyıcılığına sahip ailelerde meydana gelen düşüklerin gamet oluşumu sırasında dengeli translokasyonların dengesiz gametler oluşturabilmesi nedeniyle olabileceği sonucuna varılmıştır. Prenatal tanı dengeli translokasyon taşıyıcısı bireylerin sonraki gebelikleri için tavsiye edilmelidir.

References

  • Bruyere, H., Rajcan-Separovic, E., Doyle, J., Pantzar, T., Langlois, S., 2003. Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions. Am. J. Med. Genet. A. 123, 285-289.
  • Carp, H., Feldman, B., Oelsner, G., Schiff, E., 2004. Parental karyotype and subsequent live births in recurrent miscarriage. Fertil Steril. 81, 296-301.
  • Demirhan, O., Taşdemir, D., 2006. Partial trisomy 1p due to paternal t(1;9) translocation in a family with recurrent miscarriages. Fertil Steril. 86, 219-224.
  • Dubey, S., Chowdhury, M.R., Prahlad, B., Kumar, V., Mathur, R., Hamilton, S., Kabra, M., Menon, P.S.N., Verma, I.C., 2005. Cytogenetic causes for recurrent spontaneous abortions - An experience of 742 couples (1484 cases). Indian Journal of Human Genetics. 11, 94-98.
  • Gorski, J.L, Kistenmacher, M.L., Punnett, H.H., Zackai, E.H., Emanuel, B.S., 1988. Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families. Am. J. Med. Genet. 29, 247-261.
  • Jalbert, P., Selle, I.B., Jalbert, H., 2004. Reciprocal translccations: A way to predict the mode of imbalanced segregation by pachytene diagram drawing. Hum. Genet. 55, 209-222.
  • Oral, D., Alp, N., Budak, T., 2006. Ailesel resiprokal translokasyon olgusu ve tekrarlayan düşükler. Dicle Tıp Dergisi. 33, 182-184.
  • Sanchez, J.M., Franzi, L., Collia, F., De Diaz, S.L., Panal, M., Dubner, M., 1999. Cytogenetic study of spontaneous abortions by transabdominal villus sampling and direct analysis of villi. Prenatal Diag. 19, 601-603.
  • Seabright, M., 1971. A rapid banding technique for human chromosomes. Lancet. 2, 971-972.
  • Striano, P., Elia, M.., Castiglia, L., Galesi, O., Pelligra, S., Striano, S., 2005. A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism. Epilepsia. 46, 1322-1324.
  • Tunç, E., Demirhan, O., Demir, C., Tastemir, D., 2007. Cytogenetic study of recurrent miscarriages and their parents. Genetika. 43, 545-552.

Recurrent miscarriages and balanced translocation t(4;9)(q21;q13)

Year 2012, Volume: 29 Issue: 3, 221 - 223, 23.10.2012
https://doi.org/10.5835/jecm.omu.29.03.010

Abstract

The structural chromosomal rearrangements are common in general population. Even balanced translocation carriers could have risk for having children with unbalanced chromosomes, they are phenotypically normal. Therefore, translocation can be observed with a higher incidence in couples with a history of recurrent abortions than the general population. In this study, we presented a 20 year old female patient referred to our laboratory from Department of Gynecology and Obstetrics. She had two abortions in the first trimester (12 and 8 gestational weeks). She does not have any living child. Her other past medical history and physical examination were unremarkable. The family history of proband revealed that her mother had three girls and three boys alive. The 40 year-old mother of proband’s husband had a stilbirth. According to G-banding karyotype analysis, balanced translocation, 46, XX, t(4;9) (q21;q13), was diagnosed in the peripheral blood taken from her and her mother. Balanced translocation carriers could give unbalanced chromosomes to their newborn child. Also this observed situation shows an increase in the risk of abortion and physical anomalies. We concluded that the abortions in the family carrying balanced translocation might be due to the unbalanced distribution of chromosome translocation during gamete formation. Prenatal diagnosis should be recommended for their further pregnancies.

References

  • Bruyere, H., Rajcan-Separovic, E., Doyle, J., Pantzar, T., Langlois, S., 2003. Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions. Am. J. Med. Genet. A. 123, 285-289.
  • Carp, H., Feldman, B., Oelsner, G., Schiff, E., 2004. Parental karyotype and subsequent live births in recurrent miscarriage. Fertil Steril. 81, 296-301.
  • Demirhan, O., Taşdemir, D., 2006. Partial trisomy 1p due to paternal t(1;9) translocation in a family with recurrent miscarriages. Fertil Steril. 86, 219-224.
  • Dubey, S., Chowdhury, M.R., Prahlad, B., Kumar, V., Mathur, R., Hamilton, S., Kabra, M., Menon, P.S.N., Verma, I.C., 2005. Cytogenetic causes for recurrent spontaneous abortions - An experience of 742 couples (1484 cases). Indian Journal of Human Genetics. 11, 94-98.
  • Gorski, J.L, Kistenmacher, M.L., Punnett, H.H., Zackai, E.H., Emanuel, B.S., 1988. Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families. Am. J. Med. Genet. 29, 247-261.
  • Jalbert, P., Selle, I.B., Jalbert, H., 2004. Reciprocal translccations: A way to predict the mode of imbalanced segregation by pachytene diagram drawing. Hum. Genet. 55, 209-222.
  • Oral, D., Alp, N., Budak, T., 2006. Ailesel resiprokal translokasyon olgusu ve tekrarlayan düşükler. Dicle Tıp Dergisi. 33, 182-184.
  • Sanchez, J.M., Franzi, L., Collia, F., De Diaz, S.L., Panal, M., Dubner, M., 1999. Cytogenetic study of spontaneous abortions by transabdominal villus sampling and direct analysis of villi. Prenatal Diag. 19, 601-603.
  • Seabright, M., 1971. A rapid banding technique for human chromosomes. Lancet. 2, 971-972.
  • Striano, P., Elia, M.., Castiglia, L., Galesi, O., Pelligra, S., Striano, S., 2005. A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism. Epilepsia. 46, 1322-1324.
  • Tunç, E., Demirhan, O., Demir, C., Tastemir, D., 2007. Cytogenetic study of recurrent miscarriages and their parents. Genetika. 43, 545-552.
There are 11 citations in total.

Details

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

Gülsen Ökten

Nurten Kara

Sezgin Güneş This is me

Sengul Tural

İdris Koçak

Hamit Özyürek

Publication Date October 23, 2012
Submission Date June 15, 2011
Published in Issue Year 2012 Volume: 29 Issue: 3

Cite

APA Ökten, G., Kara, N., Güneş, S., Tural, S., et al. (2012). Recurrent miscarriages and balanced translocation t(4;9)(q21;q13). Journal of Experimental and Clinical Medicine, 29(3), 221-223. https://doi.org/10.5835/jecm.omu.29.03.010
AMA Ökten G, Kara N, Güneş S, Tural S, Koçak İ, Özyürek H. Recurrent miscarriages and balanced translocation t(4;9)(q21;q13). J. Exp. Clin. Med. October 2012;29(3):221-223. doi:10.5835/jecm.omu.29.03.010
Chicago Ökten, Gülsen, Nurten Kara, Sezgin Güneş, Sengul Tural, İdris Koçak, and Hamit Özyürek. “Recurrent Miscarriages and Balanced Translocation t(4;9)(q21;Q13)”. Journal of Experimental and Clinical Medicine 29, no. 3 (October 2012): 221-23. https://doi.org/10.5835/jecm.omu.29.03.010.
EndNote Ökten G, Kara N, Güneş S, Tural S, Koçak İ, Özyürek H (October 1, 2012) Recurrent miscarriages and balanced translocation t(4;9)(q21;q13). Journal of Experimental and Clinical Medicine 29 3 221–223.
IEEE G. Ökten, N. Kara, S. Güneş, S. Tural, İ. Koçak, and H. Özyürek, “Recurrent miscarriages and balanced translocation t(4;9)(q21;q13)”, J. Exp. Clin. Med., vol. 29, no. 3, pp. 221–223, 2012, doi: 10.5835/jecm.omu.29.03.010.
ISNAD Ökten, Gülsen et al. “Recurrent Miscarriages and Balanced Translocation t(4;9)(q21;Q13)”. Journal of Experimental and Clinical Medicine 29/3 (October 2012), 221-223. https://doi.org/10.5835/jecm.omu.29.03.010.
JAMA Ökten G, Kara N, Güneş S, Tural S, Koçak İ, Özyürek H. Recurrent miscarriages and balanced translocation t(4;9)(q21;q13). J. Exp. Clin. Med. 2012;29:221–223.
MLA Ökten, Gülsen et al. “Recurrent Miscarriages and Balanced Translocation t(4;9)(q21;Q13)”. Journal of Experimental and Clinical Medicine, vol. 29, no. 3, 2012, pp. 221-3, doi:10.5835/jecm.omu.29.03.010.
Vancouver Ökten G, Kara N, Güneş S, Tural S, Koçak İ, Özyürek H. Recurrent miscarriages and balanced translocation t(4;9)(q21;q13). J. Exp. Clin. Med. 2012;29(3):221-3.