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JYMS : Journal of Yeungnam Medical Science

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Kyoung Dong Kim 1 Article
A Case of Constitutional Trisomy 8 Mosaicism.
Hee Soon Cho, Chae Hoon Lee, Kyoung Dong Kim, Eun Sil Lee
Yeungnam Univ J Med. 2005;22(2):241-246.   Published online December 31, 2005
DOI: https://doi.org/10.12701/yujm.2005.22.2.241
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AbstractAbstract PDF
Constitutional trisomy 8 is a relatively rare aneuploidy; most identified cases are mosaic with a normal cell line. The phenotype is highly variable from apparently normal to severe disability. The proportion of abnormal cells is dramatically different between tissues and the severity of the phenotype is not directly related to the level of mosaicism. Therefore, it is very difficult to provide a definitive prognosis. We report here a case of constitutional trisomy 8 mosaicism with agenesis of the corpus callosum, congenital heart disease and micrognathia. The trisomy 8 cell line was not detected by prenatal cytogenetic study. This is the fourth reported case of constitutional trisomy 8 mosaicism in Korea.

Citations

Citations to this article as recorded by  
  • A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype
    Hye Sim Kang, Young Soo Son, Sung Yob Kim, Chul Min Park, Soon Sup Shim
    Journal of Genetic Medicine.2011; 8(1): 67.     CrossRef

JYMS : Journal of Yeungnam Medical Science