Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12)

B. Dallapiccola, Luciana Chessa, P. Vignetti, E. Ferrante, E. Gandini

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)45-49
Number of pages5
JournalHuman Genetics
Volume50
Issue number1
DOIs
Publication statusPublished - Aug 1979

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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