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Keywords:

  • aCGH;
  • chromosome 21;
  • Down syndrome;
  • DSCR;
  • interphase FISH;
  • metaphase FISH

Key Clinical Message

Maternal serum screening–positive patient had prenatal diagnosis with amniotic fluid, which showed inconsistent results between interphase fluorescence in situ hybridization (three signals of 21q22.13-21q22.2) and G-banding analysis (46,XY). Further analyses proved that the fetus had extremely complex rearrangements of chromosome 21, including the interstitial duplication of Down syndrome critical region.