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 |
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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