A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis

@article{Lee2012ACR,
  title={A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis},
  author={H. J. Lee and Seungman Park and H. Kang and J. Jun and Jung Ae Lee and D. S. Lee and S. S. Park and M. Seong},
  journal={Annals of Laboratory Medicine},
  year={2012},
  volume={32},
  pages={380 - 384}
}
Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. [...] Key Method We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The…Expand
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