AI Summary & Key Takeaways
AI InsightHis father was a carrier of this translocation so, the possible effect of parental translocations to the meiotic disjunction was discussed.
📌 3 Key Takeaways
Abstract
It was suggested that translocations and other chromosomal rearrangements disturb meiotic disjunction mechanism and increase predisposition to trisomic offsprings. We report a case with Down syndrome whose karyotype was 47,XY,t(5;12)(5pter$\rightarrow$5q11::12q24$\rightarrow$12qter; 12pter$\rightarrow$12q24::5q11$\rightarrow$ 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.
Özet
Translokasyonlar ve diger kromozomal yeniden düzenlenmelerin mayotik mekanizmayi etkileyerek, translokasyon kromozomlari disindaki kromozomlarin ise karistigi trizomik ürünlerin ortaya çikma egilimini arttirdigi öne sürülmektedir. Bu görüse uygun olarak, Down sendromu ön tanisiyla laboratuvarimiza basvuran bir olguda karyotipin 47,XY,t(5;12)(5pter$\rightarrow$5q11::12q24$\rightarrow$12qter; 12pter$\rightarrow$12q24::5q11$\rightarrow$5qter),+21 oldugu saptandi. Olgu, Down sendromu disinda fenotipik bulgu göstermediginden dengeli translokasyon tasiyicisi olarak degerlendirildi. Translokasyonun paternal orijinli oldugu anlasildi ve daha sonraki gebelikler için aileye prenatal tani önerildi. Olgu nedeni ile parental orijinli translokasyonlarin mayotik ayrilamamaya muhtemel etkileri gözden geçirildi.