Tekrarlayan düşük öykülü ailede dengeli resiprokal translokasyon olgusu: 46,XY,t(l;15)(p35: qll.l)

Nur Dokuzeylül; Semra Kahraman

doi:10.16948/zktb.31508

Recurrent spontaneous abortions in a family with balanced resiprocal translocation 46,XY,t(1;15) (p35: q11.1): Case report

Year 2009, Volume: 40 Issue: 2, 75 - 77, 01.03.2009

Abstract

Balanced resiprocal translocations (RT) constitute the major group of chromosomal abnormalities responsible for recurrent spontaneous abortions (rsa). In this study, we aimed to emphasize the importance ofpreimplantation genetic diagnosis and assisted reproductive techniques to obtain healthy embryos in a couple with 5 abortions in their reproductive history.

Keywords

Abortion, Habitual, Translocation, Genetic, Preimplantation Diagnosis, Genetic Testing, Pregnancy

References

1. Edmonds DK, Lindsay KS, Miller JF, et al. Early embryonic mortality inwomen. Fertil Steril 1982; 38:447-453
2. Wilcox AJ, Weinberg CR, O 'Connor JF, et al
Incidence of early loss of pregnancy. N Engl J Med 1988; 319:189-194
3. Jacobs PA, Hassold T. Chromosome abnormalities: origin and etiology in abortions and livebirths. In: Vogel F, Sperling K, eds. Human Genetics. Berlin: Springer-Verlag; 1987; 233-244
4. Roman E. Fetal loss rates and theirrelation to pregnancy order. J Epidemiol Community Health 1984; 38: 29-35
5. Hatasaka HH. Recurrent miscarriage: epidemiological factors, definitions, and incidence
Clin Obstet Gynecol 1994; 37; 625-634
6. Dewalds GW and Michels WW. Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families. Clin Obstet Gynecol 1986; 29: 865-885
7. Byrne J.L.C. and Ward W. Genetic factors in recurrent abortion. Clin Obstet Gynecol 1994; 37: 693-704
8. Sugiura-Ogasawara M, Ozaki Y, Sato T, et al
Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations
Fertil Steril. 2004; 81: 367-373
9. Goddijn M, Joosten JH, Knegt AC, et al. Clinical relevance of diagnosing structural: chromosome abnormalities in couples with repeated miscarriage
Hum Reprod. 2004; 19:1013-1017
10. Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. HumReprod. 2006; 21:1076-1082
11. Stephenson M, and Kutteh W. Evaluation and Management of Recurrent Early Pregnancy Loss
Clinical Obstetrics and Gynecology 2007; 50(l):132-145
12. Nussbaum, Mclnnes, Willard: Genetics in Medicine, 6th (eds). Saunders Press 2004; 148-149
13. Balcı A, Yirmibeş M, Bal F ve ark. Ailesel resiprokal translokasyon ve tekrarlayan düşükler
Perinataloji Dergisi, 1996;4;218-219
14. Haidl G., Peschka B., Schwanitz G., Montag M., van der Ven K., van der Ven H. Cytogenetic and andrological status and ICSIresults in couples with severe malefactor infertility. Asian JAndrol, 2000;2: 293-296
15. Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, et al. Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum Reprod 1997; 12:2635-40
16. Mayumi SO, Ozaki Y, Sato T, Suzimori N, Suzumori K, Yamada A, et al: Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Fertility and Sterility 2004; 81:31-4
17. Munne S, Sandalinas M, Escudero T, Fung J, Gianoroli L, Cohen J: Outcome ofpreimplantation genetic diagnosis of translocations. Fertil Steril 2000; 73:1209-18

Tekrarlayan düşük öykülü ailede dengeli resiprokal translokasyon olgusu: 46,XY,t(l;15)(p35: qll.l)

Year 2009, Volume: 40 Issue: 2, 75 - 77, 01.03.2009

Nur Dokuzeylül Semra Kahraman

Abstract

Dengeli resiprokal translokasyonlar (RT), çiftlerde tekrarlayan düşüklerden sorumlu olan kromozomal düzensizliklerin en büyük grubunu oluşturur. Bu çalışmamızda merkezimize re/ere edilen; reprodüktif öyküsünde 5 düşük olan çiftte yardımcı üreme teknikleri (YÜT) ve preimplantasyon genetik tanı (PGT) ile sağlıklı embryonun seçilerek gebelik elde edilmesinin önemini vurgulamayı amaçladık.

Keywords

Düşük, tekrarlayan, Translokasyon, genetik, İmplantasyon öncesi tanı, Genetik test, Gebelik

References

1. Edmonds DK, Lindsay KS, Miller JF, et al. Early embryonic mortality inwomen. Fertil Steril 1982; 38:447-453
2. Wilcox AJ, Weinberg CR, O 'Connor JF, et al
Incidence of early loss of pregnancy. N Engl J Med 1988; 319:189-194
3. Jacobs PA, Hassold T. Chromosome abnormalities: origin and etiology in abortions and livebirths. In: Vogel F, Sperling K, eds. Human Genetics. Berlin: Springer-Verlag; 1987; 233-244
4. Roman E. Fetal loss rates and theirrelation to pregnancy order. J Epidemiol Community Health 1984; 38: 29-35
5. Hatasaka HH. Recurrent miscarriage: epidemiological factors, definitions, and incidence
Clin Obstet Gynecol 1994; 37; 625-634
6. Dewalds GW and Michels WW. Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families. Clin Obstet Gynecol 1986; 29: 865-885
7. Byrne J.L.C. and Ward W. Genetic factors in recurrent abortion. Clin Obstet Gynecol 1994; 37: 693-704
8. Sugiura-Ogasawara M, Ozaki Y, Sato T, et al
Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations
Fertil Steril. 2004; 81: 367-373
9. Goddijn M, Joosten JH, Knegt AC, et al. Clinical relevance of diagnosing structural: chromosome abnormalities in couples with repeated miscarriage
Hum Reprod. 2004; 19:1013-1017
10. Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. HumReprod. 2006; 21:1076-1082
11. Stephenson M, and Kutteh W. Evaluation and Management of Recurrent Early Pregnancy Loss
Clinical Obstetrics and Gynecology 2007; 50(l):132-145
12. Nussbaum, Mclnnes, Willard: Genetics in Medicine, 6th (eds). Saunders Press 2004; 148-149
13. Balcı A, Yirmibeş M, Bal F ve ark. Ailesel resiprokal translokasyon ve tekrarlayan düşükler
Perinataloji Dergisi, 1996;4;218-219
14. Haidl G., Peschka B., Schwanitz G., Montag M., van der Ven K., van der Ven H. Cytogenetic and andrological status and ICSIresults in couples with severe malefactor infertility. Asian JAndrol, 2000;2: 293-296
15. Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, et al. Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum Reprod 1997; 12:2635-40
16. Mayumi SO, Ozaki Y, Sato T, Suzimori N, Suzumori K, Yamada A, et al: Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Fertility and Sterility 2004; 81:31-4
17. Munne S, Sandalinas M, Escudero T, Fung J, Gianoroli L, Cohen J: Outcome ofpreimplantation genetic diagnosis of translocations. Fertil Steril 2000; 73:1209-18

There are 24 citations in total.

Details

Primary Language	Turkish
Journal Section	Articles
Authors	Nur Dokuzeylül This is me Semra Kahraman This is me
Publication Date	March 1, 2009
Published in Issue	Year 2009 Volume: 40 Issue: 2

Cite

APA	Dokuzeylül, N., & Kahraman, S. (2009). Tekrarlayan düşük öykülü ailede dengeli resiprokal translokasyon olgusu: 46,XY,t(l;15)(p35: qll.l). Zeynep Kamil Tıp Bülteni, 40(2), 75-77. https://doi.org/10.16948/zktb.31508
AMA	Dokuzeylül N, Kahraman S. Tekrarlayan düşük öykülü ailede dengeli resiprokal translokasyon olgusu: 46,XY,t(l;15)(p35: qll.l). Zeynep Kamil Tıp Bülteni. March 2009;40(2):75-77. doi:10.16948/zktb.31508
Chicago	Dokuzeylül, Nur, and Semra Kahraman. “Tekrarlayan düşük öykülü Ailede Dengeli Resiprokal Translokasyon Olgusu: 46,XY,t(l;15)(p35: qll.L)”. Zeynep Kamil Tıp Bülteni 40, no. 2 (March 2009): 75-77. https://doi.org/10.16948/zktb.31508.
EndNote	Dokuzeylül N, Kahraman S (March 1, 2009) Tekrarlayan düşük öykülü ailede dengeli resiprokal translokasyon olgusu: 46,XY,t(l;15)(p35: qll.l). Zeynep Kamil Tıp Bülteni 40 2 75–77.
IEEE	N. Dokuzeylül and S. Kahraman, “Tekrarlayan düşük öykülü ailede dengeli resiprokal translokasyon olgusu: 46,XY,t(l;15)(p35: qll.l)”, Zeynep Kamil Tıp Bülteni, vol. 40, no. 2, pp. 75–77, 2009, doi: 10.16948/zktb.31508.
ISNAD	Dokuzeylül, Nur - Kahraman, Semra. “Tekrarlayan düşük öykülü Ailede Dengeli Resiprokal Translokasyon Olgusu: 46,XY,t(l;15)(p35: qll.L)”. Zeynep Kamil Tıp Bülteni 40/2 (March 2009), 75-77. https://doi.org/10.16948/zktb.31508.
JAMA	Dokuzeylül N, Kahraman S. Tekrarlayan düşük öykülü ailede dengeli resiprokal translokasyon olgusu: 46,XY,t(l;15)(p35: qll.l). Zeynep Kamil Tıp Bülteni. 2009;40:75–77.
MLA	Dokuzeylül, Nur and Semra Kahraman. “Tekrarlayan düşük öykülü Ailede Dengeli Resiprokal Translokasyon Olgusu: 46,XY,t(l;15)(p35: qll.L)”. Zeynep Kamil Tıp Bülteni, vol. 40, no. 2, 2009, pp. 75-77, doi:10.16948/zktb.31508.
Vancouver	Dokuzeylül N, Kahraman S. Tekrarlayan düşük öykülü ailede dengeli resiprokal translokasyon olgusu: 46,XY,t(l;15)(p35: qll.l). Zeynep Kamil Tıp Bülteni. 2009;40(2):75-7.