## Abstract Down syndrome (DS) is the most common aneuploidy in liveborns with an estimated frequency of 1 in 650β1,000 births. Approximately 1β2% of all liveβborn DS individuals have mosaicism. The correlation between the percentage of mosaicism and the severity of the phenotype in mosaic trisomy
Activity of rRNA genes in cells of a patient with Down syndrome mosaic
β Scribed by R. -D. Wegner; P. Aldenhoff; K. Sperling
- Publisher
- Springer
- Year
- 1980
- Tongue
- English
- Weight
- 226 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
Disomic and trisomic cells of a patient with Down syndrome mosaic were used to study the effect of the additional chromosome 21 against an identical genetic background. The frequency of AG staining and the participation in satellite associations were determined for each pair of acrocentric chromosomes. The additional chromosome 21 of the trisomic cells and its homologues proved to be regularly Ag positive. Therefore the trisomic cells showed more AG positive chromosomes and more satellite associations per cell than the diploid cells. Thus, no compensation for the additional rRNA-gene dose could be found in the cells of the trisomic line.
π SIMILAR VOLUMES
Normal and trisomic cells of patients with Down syndrome mosaic offer the unique possibility to study the effect of an additional chromosome no. 21 against an identical genetic background. Here we show that a significant increase in the frequency of Trenimon induced sister chromatid exchanges (SCEs)