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

Öz

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.

Anahtar Kelimeler

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

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

Öz

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.

Anahtar Kelimeler

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

Kaynakça

1. 1. Edmonds DK, Lindsay KS, Miller JF, et al. Early embryonic mortality inwomen. Fertil Steril 1982; 38:447-453
2. 2. Wilcox AJ, Weinberg CR, O 'Connor JF, et al
3. Incidence of early loss of pregnancy. N Engl J Med 1988; 319:189-194
4. 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
5. 4. Roman E. Fetal loss rates and theirrelation to pregnancy order. J Epidemiol Community Health 1984; 38: 29-35
6. 5. Hatasaka HH. Recurrent miscarriage: epidemiological factors, definitions, and incidence
7. Clin Obstet Gynecol 1994; 37; 625-634
8. 6. Dewalds GW and Michels WW. Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families. Clin Obstet Gynecol 1986; 29: 865-885

9. 7. Byrne J.L.C. and Ward W. Genetic factors in recurrent abortion. Clin Obstet Gynecol 1994; 37: 693-704
10. 8. Sugiura-Ogasawara M, Ozaki Y, Sato T, et al
11. Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations
12. Fertil Steril. 2004; 81: 367-373
13. 9. Goddijn M, Joosten JH, Knegt AC, et al. Clinical relevance of diagnosing structural: chromosome abnormalities in couples with repeated miscarriage
14. Hum Reprod. 2004; 19:1013-1017
15. 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
16. 11. Stephenson M, and Kutteh W. Evaluation and Management of Recurrent Early Pregnancy Loss
17. Clinical Obstetrics and Gynecology 2007; 50(l):132-145
18. 12. Nussbaum, Mclnnes, Willard: Genetics in Medicine, 6th (eds). Saunders Press 2004; 148-149
19. 13. Balcı A, Yirmibeş M, Bal F ve ark. Ailesel resiprokal translokasyon ve tekrarlayan düşükler
20. Perinataloji Dergisi, 1996;4;218-219
21. 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
22. 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
23. 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
24. 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