Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12.

@article{etin2011PureAC,
  title={Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12.},
  author={Zafer Çetin and Ercan Mihçi and Sezin Yakut and Ibrahim Keser and Sibel Berker Karauzum and Guven Luleci},
  journal={American journal of medical genetics. Part A},
  year={2011},
  volume={155A 2},
  pages={349-52}
}
Pure and complete 12p trisomy are rare. Here, we report on a unique patient with trisomy 12p syndrome due to centric fission of maternal chromosome 12. Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques revealed the proposita's karyotype to be 47,XX,+fis(12)(p10)mat whereas the maternal one was 47,XX,-12,+fis(12)(p10),+fis(12) (q10). This is the first report on centric fission of chromosome 12 leading to stable telocentrics, each with a fully functional centromere… CONTINUE READING

From This Paper

Topics from this paper.
3 Citations
0 References
Similar Papers