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

  • Authors:
    • T Liehr
    • H Starke
    • V Beensen
    • C Kähler
    • M Harbich
    • E Brude
    • M Ziegler
    • U Claussen
  • View Affiliations

  • Published online on: January 1, 1999     https://doi.org/10.3892/ijmm.3.1.11
  • Pages: 11-15
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Abstract

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 between free and translocation trisomy dup(21q) can be achieved by evaluating the percentage of nuclei with one single and two co-localized chromosome 21q22.13-q22.2 specific signals in 50-100 interphase nuclei. While in translocation trisomy 75+/-4.3% are co-localized due to a chromosomal rearrangement, in free trisomy 21 only 40+/-2.83% of the nuclei have two co-localized signals by chance. No differences in interphase signal distribution could be detected in two cases with a dicentric chromosome dup(21q) compared to one case with a monocentric one, a comparison not previously carried out. In addition, the single copy probe LSI 21 was compared with the alphoid probe D13Z1/D21Z1 which was found to be unsuitable for such assays due to polymorphisms in the á satellite regions of chromosome 21.

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Jan 1999
Volume 3 Issue 1

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Liehr T, Starke H, Beensen V, Kähler C, Harbich M, Brude E, Ziegler M and Claussen U: Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH.. Int J Mol Med 3: 11-15, 1999
APA
Liehr, T., Starke, H., Beensen, V., Kähler, C., Harbich, M., Brude, E. ... Claussen, U. (1999). Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH.. International Journal of Molecular Medicine, 3, 11-15. https://doi.org/10.3892/ijmm.3.1.11
MLA
Liehr, T., Starke, H., Beensen, V., Kähler, C., Harbich, M., Brude, E., Ziegler, M., Claussen, U."Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH.". International Journal of Molecular Medicine 3.1 (1999): 11-15.
Chicago
Liehr, T., Starke, H., Beensen, V., Kähler, C., Harbich, M., Brude, E., Ziegler, M., Claussen, U."Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH.". International Journal of Molecular Medicine 3, no. 1 (1999): 11-15. https://doi.org/10.3892/ijmm.3.1.11