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::p.3→p11.1:)]. 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.
|Original language||English (US)|
|Number of pages||10|
|Journal||American journal of human genetics|
|State||Published - 1984|
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