Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH

  • J. Lee
  • , J. R. Stanley
  • , S. A. Vaz
  • , J. J. Mulvihill
  • , P. Wilson
  • , D. Hopcus-Niccum
  • , Shibo Li*
  • *Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology