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Laboratuvarımızda saptanan dengeli ve dengesiz resiprokal translokasyonların dağılımı

Karyotypic distribution of reciprocal balanced and unbalanced translocations in our laboratory

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2002

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
İn this study karyotipic distribution of reciprocal translocations were investigated in 15 cases who referred to our laboratory because of reproductive wastage and having a baby with multiple congenitai defects. They distributed as foliovvs; 6 unbalanced reciprocal translocations; 7 balanced reciprocal translocations and 2 balanced reciprocal translocations with trisomy 21. Afi of the unbalanced karyotypes were partiai trisomies and three of them were inherited maternally while the other three were inherited paternaliy. Family investigations were done in balanced reciprocal translocation carriers and İt was seen ihat three of them were de novo, two paternal and one maternal- Mechanisms of reciprocal translocations, their population rates and risks of carriers were evaluated by using our results.
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Abstract (Original Language): 
Bu çalışmada üreme kayıpları ve doğumsal anomalili çocuk nedeniyle sitogenetik analiz uygulanan 15 olguda farklı kromozomları tutan resiprokal translokasyonların dağılımı incelendi. 6 olguda dengesiz, 9 olguda dengeli resiprokal transiokasyon saptandı. Dengesiz karyotiplerin tümü parsiyel trizomiler olup, 3'ü maternal, 3'ü paternal kalıtım gösteriyordu. Dengeli resiprokal transiokasyon taşıyıcısı olan ve aile çalışmaları yapılabilen olgularımızın fi maternal, 2'si paternal, 3:ü de novo idi. İki olguda dengeli resiprokal translokasyona trizomi 21 eşlik ediyordu. Bulgularımıza dayalı olarak; resiprokal translokasyonların mekanizması, populasyondaki sıklığı, taşıyıcı bireylerin üreme kayıpları ve anomalili çocuk sahibi olma riskleri gözden geçirildi.
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REFERENCES

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