Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH.

@article{Liehr1999TranslocationTD,
  title={Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH.},
  author={Thomas Liehr and Heike Starke and Volkmar Beensen and Christiane Kaehler and M Harbich and Elke Brude and Monika Ziegler and Uwe Claussen},
  journal={International journal of molecular medicine},
  year={1999},
  volume={3 1},
  pages={11-4}
}
The possibility of distinguishing in routine diagnostics translocation trisomy dup(21q) from disomy 21 as well as from free trisomy 21 using interphase fluorescence in situ hybridization (FISH) with a single copy probe (LSI 21) localized on chromosome 21q22.13-q22.2 is described. In free trisomy 21 and translocation trisomy dup(21q) 94%-98% of the nuclei exhibit 3 specific signals, while in disomy 21 only up to 6% of them have 3 false positive signals. Furthermore, reliable differentiation… CONTINUE READING

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