Summary
A female infant with multiple congenital anomalies is presented. Cytogenetic study revealed the presence of a de novo, supernumerary, small telocentric chromosome exhibiting the banding pattern of the short arm of chromosome no. 10 [47,XX,+10p(pter→cen)]. Her clinical features were compatible with the 10p trisomy syndrome. Hexokinase (HK-1) activity was elevated in the patient's erythrocytes, which is consistent with an assignment of HK-1 to 10pter→cen10. The absence of a gene dosage effect for inorganic pyrophosphatase (PP) in this study indicates exclusion of PP from 10pter →cen10, and therefore implies a regional assignment of cen10→10q24 for PP. Adenosine kinase (ADK) activity was within control limits, which is consistent with exclusion of ADK from 10pter→cen10.
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Snyder, F.F., Lin, C.C., Rudd, N.L. et al. A de novo case of trisomy 10p: Gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum Genet 67, 187–189 (1984). https://doi.org/10.1007/BF00272998
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DOI: https://doi.org/10.1007/BF00272998