Abstract
A male patient with mental retardation and typical clinical features of 10p trisomy syndrome was found to have a duplication of the short arm of chromosome 10 attached to the short arm of the Y chromosome. Quantitative evaluation of nine red cell enzymes showed significantly increased activity levels of HK1 and, to a lesser extent, of PK, PGI, 6PGD, and G6PD. It is suggested that the HK1 locus may be in the 10pter→p12 region. The increased levels of HK1 could affect other erythrocyte metabolic pathways slowing down the physiological rate of cellular senescence and result in increased activity levels of other cell-age-dependent enzymes.
| Original language | English |
|---|---|
| Pages (from-to) | 45-49 |
| Number of pages | 5 |
| Journal | Human Genetics |
| Volume | 50 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Aug 1979 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
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Dallapiccola, B., Chessa, L., Vignetti, P., Ferrante, E., & Gandini, E. (1979). Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12). Human Genetics, 50(1), 45-49. https://doi.org/10.1007/BF00295588