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 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p : t(Y;10)(p11;p12). / Dallapiccola, B.; Chessa, Luciana; Vignetti, P.; Ferrante, E.; Gandini, E.
In: Human Genetics, Vol. 50, No. 1, 08.1979, p. 45-49.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p
T2 - t(Y;10)(p11;p12)
AU - Dallapiccola, B.
AU - Chessa, Luciana
AU - Vignetti, P.
AU - Ferrante, E.
AU - Gandini, E.
PY - 1979/8
Y1 - 1979/8
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0018330866&partnerID=8YFLogxK
U2 - 10.1007/BF00295588
DO - 10.1007/BF00295588
M3 - Article
C2 - 468260
AN - SCOPUS:0018330866
VL - 50
SP - 45
EP - 49
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 1
ER -