Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter.

@article{Park2014MolecularCO,
  title={Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter.},
  author={C. Park and Heejin Kim and S. Lee and J. Seo and S. Kim},
  journal={Gene},
  year={2014},
  volume={537 2},
  pages={
          343-7
        }
}
  • C. Park, Heejin Kim, +2 authors S. Kim
  • Published 2014
  • Biology, Medicine
  • Gene
  • Trisomy of the short arm of chromosome 17 (T17P) is a genomic disorder presenting with growth retardation, motor and mental retardation and constitutional physical anomalies including congenital heart defects. Here we report a case of near-complete T17P of which the genomic dosage aberrations were delineated by chromosomal microarray along with conventional diagnostic modalities. A 9-year-old Korean boy was admitted because of esophageal obstruction. He showed clinical manifestations of T17P… CONTINUE READING
    3 Citations

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