Reciprocal translocation 5;12 carier in a case with trisomy 21

AYŞE GÜL ZAMANİ, HATİCE GÜL DURSUN, Sennur Demirel, AYNUR ACAR

  • AYŞE GÜL ZAMANİ: NECMETTİN ERBAKAN ÜNİVERSİTESİ
  • HATİCE GÜL DURSUN: SELÇUK ÜNİVERSİTESİ
  • Sennur Demirel: Selçuk Üniversitesi Meram Tıp Fakültesi
  • AYNUR ACAR: SELÇUK ÜNİVERSİTESİ
  • Year : 2001
  • Vol : 17
  • Issue : 1
  •  Page : 49-51
İt was suggested that translocations and other chromosomal rearrangements disturb meiotic disjunction mechanism and increase predisposition to trisomic offsprı'ngs. VVe report a case with Down syndrome whose karyotype was 47,XY,t(5;12)(5pter->5q11 ::12q24->12qter;12pter->12q24::5q11-> 5qter),+21. Because of the absence of any phenotypic findings, except Down syndrome stigmata, he has been accepted as a balanced translocation carrier with trisomy 21. His father was a carrier of this translocation so, the possible effect of parental translocations to the meiotic disjunction was discussed.

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Conflict of interest : Yok
This article is published under the CC BY-NC 4.0 license.
Selcuk Medical Journal
2001, Vol. 17 (1)
ISSN: 1017-6616
E-ISSN: 2149-8059
Received : , Accepted : , Published Online :