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A mother with balancet reciprocal translocation t(2;6) (q24.1;q27): Case report

Year 2007, Volume: 38 Issue: 1, 25 - 27, 01.02.2007

Ali Karaman

Abstract

Reciprocal Translocations, the most frequent structural aberration in humans, are mainly transmitted by one of the parents. This type of rearrangement results from breakage of nonhomologous chromosomes, with reciprocal exchange of the broken-of segments. Usually only two chromosomes are involved, and because the exchange is reciprocal, the total chromosome number is unchanged. Such translocations are usually harmless. However, like other balanced structural rearrangements they are associated with ahigh risk of unbalanced gametes and abnormal progeny. Here we report a carry balanced reciprocal translocation with a 27 years age women. The case has been resulted by all pregnancies end in spontaneous abortions before 12 weeks gestation.

Keywords

Adult Abortion Spontaneous Translocation Genetic Chromosome Aberrations Cytogenetic Analysis Female

References

  • l.DejmekJ, VojtassakJ. MalovaJ. Cytogenetic analysis of 1508 spontaneous abortions originating from south Siovakaia. Eur J Obstet Gynecol Reprod Biol 1992:46:129-36
  • 2. Boue A, Boue J, Gropp A. Cytogenetics in pregnancy wastage. In: Harris H, Hirschhorn K, editors. Advances in human genetics. New York: Plenum Press,1985;14:l-57
  • 3. Attar NE, Işıkoğlu M. Jinekoloji pratik yaklaşım, Ankara: Atlas Kitapçılık, 1995:151- 157
  • 4. Schwartz S,Palmer CG. Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history
  • Hum Genet 1983,63:28-34
  • 5. Husslein P, Huber J, Wagnbichler P
  • Chromosome abnormalities in 150 couples with spontaneous abortions. Fertil Steril 1982,-37:379-83
  • 6. Neri G, SerraA, Campana M. Reproductive risks for translocations: cytogenetic study and analysis pf pregnancy outcome in 58 families, Am J Med Genet 1983;16:535-61
  • 7.AhnJM, Koo DH, KwonKW, LeeYK.Et al. Partial trisomy 2q(2q37.3 _ qter) and monosomy 7q(7q34 _ qter) due to paternal reciprocal translocation 2;7, J Korean Med Sci2003; 18:112-3 8. Nussbaum RL, Mclnnes RR, Willard HF
  • Principles of Clinical Cytogenetics, Thompson and Thompson Genetics In Medicine. W.B
  • Saunders Company, sixth ed 2001:146-149
  • 9. Patriarca A, Piccioni V, Gigante V. et al
  • Recurrent spontaneous abortion. Etiologic factors. Panminerva Med 2000; 42; 105-108
  • 10. Coulam CB, Clark DA, Beer AE, Kutteh WH, et al. Current clinical options for diagnosis and treatment of recurrent spontaneous abortion. Clinical Guidelines Recommendation Committee for Diagnosis and Treatment of Recurrent Spontaneous Abortion. Am J Reprod Immunol 1997; 38:57-74
  • 11. Har ger JH, Archer DF, Marchese SG, Muracca-Clemens M, Garver KL. Etiology of recurrent pregnancy losses and outcome of subsequent pregnancies. Obstet Gynecol 1983;62(5):574-81
  • 12. Nagaishi M, Yamamoto T, Unuma K, Shimomura K, et al. Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan. J Obstet Gynaecol Res 2004; 30:237-41
  • 13. Campana M, Serra A, Neri G. Role of chromosome aberrations in receurrent abortion: a study of 269 balanced translocations. Am J Med Genet 1986;24:341- 65
  • 14. Makino T, Tabuchi T, Nakada K
  • Chromosomal analysisi in Japanese couples with repeated spontaneous abortions. In J Fertil 1990 ;35:266-268
  • 15. Robert F Mueller, Ian D Young, Structural Abnormalities, Emery's Elements of Medical Genetics,Tenth Edition, 1998: 45,46
  • 16. Braekeleer MD, Dao TN. Cytogenetic studies in couples experiencing repeated pregnancy losses. Hum Reprod 1990;5:519- 28 17. Alp MN, Oral D. Genetic screening of couples with recurrent spontaneous abortion
  • Dicle Tıp Dergisi 2006;33(2):71-80
  • 18. Davis JR, Rogers BB, Hagaman RM
  • Balanced reciprocal translocations: risk factor s for aneuploid segregant viability. Clin Genet 1985,-27:1-19
  • 19. Barros A Tavares MC, Castedo S. A complex balanced chromosomal rearrangement in repeated abortions. Hum Genet 1987 ;75-.388-390.

Dengeli resiprokal translokasyonlu bir anne, t(2;6) (q24.1;q27): Olgu sunumu

Year 2007, Volume: 38 Issue: 1, 25 - 27, 01.02.2007

Ali Karaman

Abstract

İnsanlardaki en sık yapısal aberasyon olan resiprokal translokasyonlar, temelde ebevenlerin birisi tarafından geçirilir. Yeniden düzenlenmelerin bu tipi homolog olmayan kromozomlardaki kırılma ve kınlan parçaların resiprokal değişimiyle oluşur. Genellikle sadece iki kromozomla ilgilidir, değişim resiprokal olduğu için toplam kromozom sayısı değişmez. Böyle translokasy onlar genellikle zararsızdır. Ancak, diğer dengeli yapısal yeniden düzenlemeler gibi, dengesiz gametler ve anormal soy için yüksek riskle ilişkilidirler. Burada rapor edilen olgu, 27 yaşında dengeli resiprokal translokasyon taşıyıcısı genç bir kadındı. Olgunun bütün gebelikleri 12. haftadan önce spontan abortuşla sonuçlanmıştı.

Keywords

Erişkin Düşük kendiliğinden Translokasyon genetik Kromozom sapmaları Sitogenetik analiz Kadın

References

  • l.DejmekJ, VojtassakJ. MalovaJ. Cytogenetic analysis of 1508 spontaneous abortions originating from south Siovakaia. Eur J Obstet Gynecol Reprod Biol 1992:46:129-36
  • 2. Boue A, Boue J, Gropp A. Cytogenetics in pregnancy wastage. In: Harris H, Hirschhorn K, editors. Advances in human genetics. New York: Plenum Press,1985;14:l-57
  • 3. Attar NE, Işıkoğlu M. Jinekoloji pratik yaklaşım, Ankara: Atlas Kitapçılık, 1995:151- 157
  • 4. Schwartz S,Palmer CG. Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history
  • Hum Genet 1983,63:28-34
  • 5. Husslein P, Huber J, Wagnbichler P
  • Chromosome abnormalities in 150 couples with spontaneous abortions. Fertil Steril 1982,-37:379-83
  • 6. Neri G, SerraA, Campana M. Reproductive risks for translocations: cytogenetic study and analysis pf pregnancy outcome in 58 families, Am J Med Genet 1983;16:535-61
  • 7.AhnJM, Koo DH, KwonKW, LeeYK.Et al. Partial trisomy 2q(2q37.3 _ qter) and monosomy 7q(7q34 _ qter) due to paternal reciprocal translocation 2;7, J Korean Med Sci2003; 18:112-3 8. Nussbaum RL, Mclnnes RR, Willard HF
  • Principles of Clinical Cytogenetics, Thompson and Thompson Genetics In Medicine. W.B
  • Saunders Company, sixth ed 2001:146-149
  • 9. Patriarca A, Piccioni V, Gigante V. et al
  • Recurrent spontaneous abortion. Etiologic factors. Panminerva Med 2000; 42; 105-108
  • 10. Coulam CB, Clark DA, Beer AE, Kutteh WH, et al. Current clinical options for diagnosis and treatment of recurrent spontaneous abortion. Clinical Guidelines Recommendation Committee for Diagnosis and Treatment of Recurrent Spontaneous Abortion. Am J Reprod Immunol 1997; 38:57-74
  • 11. Har ger JH, Archer DF, Marchese SG, Muracca-Clemens M, Garver KL. Etiology of recurrent pregnancy losses and outcome of subsequent pregnancies. Obstet Gynecol 1983;62(5):574-81
  • 12. Nagaishi M, Yamamoto T, Unuma K, Shimomura K, et al. Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan. J Obstet Gynaecol Res 2004; 30:237-41
  • 13. Campana M, Serra A, Neri G. Role of chromosome aberrations in receurrent abortion: a study of 269 balanced translocations. Am J Med Genet 1986;24:341- 65
  • 14. Makino T, Tabuchi T, Nakada K
  • Chromosomal analysisi in Japanese couples with repeated spontaneous abortions. In J Fertil 1990 ;35:266-268
  • 15. Robert F Mueller, Ian D Young, Structural Abnormalities, Emery's Elements of Medical Genetics,Tenth Edition, 1998: 45,46
  • 16. Braekeleer MD, Dao TN. Cytogenetic studies in couples experiencing repeated pregnancy losses. Hum Reprod 1990;5:519- 28 17. Alp MN, Oral D. Genetic screening of couples with recurrent spontaneous abortion
  • Dicle Tıp Dergisi 2006;33(2):71-80
  • 18. Davis JR, Rogers BB, Hagaman RM
  • Balanced reciprocal translocations: risk factor s for aneuploid segregant viability. Clin Genet 1985,-27:1-19
  • 19. Barros A Tavares MC, Castedo S. A complex balanced chromosomal rearrangement in repeated abortions. Hum Genet 1987 ;75-.388-390.
There are 25 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Ali Karaman This is me

Publication Date February 1, 2007
Published in Issue Year 2007 Volume: 38 Issue: 1

Cite

APA Karaman, A. (2007). Dengeli resiprokal translokasyonlu bir anne, t(2;6) (q24.1;q27): Olgu sunumu. Zeynep Kamil Tıp Bülteni, 38(1), 25-27. https://doi.org/10.16948/zktb.83235
AMA Karaman A. Dengeli resiprokal translokasyonlu bir anne, t(2;6) (q24.1;q27): Olgu sunumu. Zeynep Kamil Tıp Bülteni. February 2007;38(1):25-27. doi:10.16948/zktb.83235
Chicago Karaman, Ali. “Dengeli Resiprokal Translokasyonlu Bir Anne, t(2;6) (q24.1;Q27): Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 38, no. 1 (February 2007): 25-27. https://doi.org/10.16948/zktb.83235.
EndNote Karaman A (February 1, 2007) Dengeli resiprokal translokasyonlu bir anne, t(2;6) (q24.1;q27): Olgu sunumu. Zeynep Kamil Tıp Bülteni 38 1 25–27.
IEEE A. Karaman, “Dengeli resiprokal translokasyonlu bir anne, t(2;6) (q24.1;q27): Olgu sunumu”, Zeynep Kamil Tıp Bülteni, vol. 38, no. 1, pp. 25–27, 2007, doi: 10.16948/zktb.83235.
ISNAD Karaman, Ali. “Dengeli Resiprokal Translokasyonlu Bir Anne, t(2;6) (q24.1;Q27): Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 38/1 (February 2007), 25-27. https://doi.org/10.16948/zktb.83235.
JAMA Karaman A. Dengeli resiprokal translokasyonlu bir anne, t(2;6) (q24.1;q27): Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2007;38:25–27.
MLA Karaman, Ali. “Dengeli Resiprokal Translokasyonlu Bir Anne, t(2;6) (q24.1;Q27): Olgu Sunumu”. Zeynep Kamil Tıp Bülteni, vol. 38, no. 1, 2007, pp. 25-27, doi:10.16948/zktb.83235.
Vancouver Karaman A. Dengeli resiprokal translokasyonlu bir anne, t(2;6) (q24.1;q27): Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2007;38(1):25-7.