Karyotypic distribution of reciprocal balanced and unbalanced translocations in our laboratory

SEMA TUNCER, ALPER YOSUNKAYA, AYBARS TAVLAN , AHMET TOPAL, SELMİN ÖKESLİ

  • SEMA TUNCER: NECMETTİN ERBAKAN ÜNİVERSİTESİ
  • ALPER YOSUNKAYA: NECMETTİN ERBAKAN ÜNİVERSİTESİ
  • AYBARS TAVLAN: NECMETTİN ERBAKAN ÜNİVERSİTESİ
  • AHMET TOPAL: SELÇUK ÜNİVERSİTESİ
  • SELMİN ÖKESLİ: NECMETTİN ERBAKAN ÜNİVERSİTESİ
  • Year : 2002
  • Vol : 18
  • Issue : 2
  •  Page : 123-129
İn this study, karyotipic distribution of reciprocal translocations were investigated in 15 cases who referred to our laboratory because of reproductive vvastage and having a baby with multiple congenital defects. They distributed as follovvs; 6 unbalanced reciprocal translocations; 7 balanced reciprocal translocations and 2 balanced reciprocal translocations with trisomy 21. Ali of the unbalanced karyotypes were partal trisomies and three of them were inherited maternally while the other three were inherited paternally. Family investigations were done in balanced reciprocal translocation carriers and it was seen that 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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Conflict of interest : Yok
Selcuk Medical Journal
2002, Vol. 18 (2)
ISSN: 1017-6616
E-ISSN: 2149-8059
Received : , Accepted : , Published Online :