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 leads to 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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Dallapiccola B,Chessa L,Vignetti P,Ferrante E,Gandini Edoi
10.1007/BF00295588subject
Has Abstractpub_date
1979-01-01 00:00:00pages
45-9issue
1eissn
0340-6717issn
1432-1203journal_volume
50pub_type
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