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2;9 Translokasyonu Taşıyan Bir Olgu Sunumu

A Case Report with Translocation 2;9

Journal Name:

  • Fırat Tıp Dergisi

Publication Year:

  • 2009

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Reciprocal translocations are the most common structural rearrangements in humans. In this study, we present the results of a cytogenetic analysis performed on a couple, who were referred to our laboratory with three abortions and one intrauterine death in their reproductive history. We found a normal karyotype (46,XY) in male, and balanced reciprocal translocation [46,XX,t(2;9)(q22;q22),inv(9)(p11q13)] in the female. In about 4% of couples with recurrent miscarriage one partner carries either a balanced reciprocal translocation or a robertsonian translocation. Thus, cytogenetic analyses should be recommended in couples with recurrent miscarriages.
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Abstract (Original Language): 
Resiprokal translokasyonlar insanlarda en yaygın yapısal kromozom anomalileridir. Bu çalışmamızda, laboratuvarımıza refere edilen, reprodüktif öyküsünde üç düşük ve bir intrauterin ölüm bulunan çiftte yapılan sitogenetik analiz sonuçları sunulmuştur. Erkekte normal karyotip (46,XY), kadında resiprokal translokasyon [46,XX,t(2;9)(q22;q22),inv(9)(p11q13)] belirlenmiştir. Tekrarlayan düşükleri olan çiftlerin yaklaşık %4'ünde, parentlerden biri ya dengeli bir resiprokal translokasyon ya da bir robertsonian translokasyon taşıyıcısıdır. Bu yüzden tekrarlayan düşükleri olan çiftlere sitogenetik analiz önerilmelidir.
FULL TEXT (PDF): 
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  • 2
132-133
  • Turkish

REFERENCES

References: 

1.
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2. Rai R Regan L. Recurrent miscarriage. Lancet 2006; 368 (9535):601-611.
3. Wiland E, Hobel CJ, Hill D, Kurpisz M. Successful pregnancy after preimplantation genetic diagnosis for carrier of t(2;7)(p11.2;q22) with high rates of unbalanced sperm and embryos: a case report. Prenat Diagn 2008; 28(1):36-41.
4. Ogilvie CM, Braude P, Scriven PN. Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations. Hum Fertil (Camb) 2001; 4(3):168-171.
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