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. 1984 Jul;36(4):750–759.

Duplication of chromosome 10p: confirmation of regional assignments of platelet-type phosphofructokinase.

S Schwartz, M M Cohen, S R Panny, J H Beisel, S Vora
PMCID: PMC1684484  PMID: 6236690

Abstract

A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), previously localized to 10p, and hexokinase-I (HKI), putatively on 10p, demonstrated 153% and 149% of control activity in the proband's fibroblasts. These gene-dosage effects confirmed the clinical and cytogenetic observations as well as the localization of HKI to 10p. Additionally, phosphofructokinase (PFK) and hexokinase (HK), which are control points in the glycolytic pathway, were shown to be syntenic.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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