title: A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase.
abstract: 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D000248:Adenosine Kinase / Q000097:blood / Q000235:genetics*; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006593:Hexokinase / Q000097:blood / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D010770:Phosphotransferases / Q000235:genetics*; D011755:Pyrophosphatases / Q000097:blood / Q000235:genetics*; D014314:Trisomy
chemical_list: D010770:Phosphotransferases; D006593:Hexokinase; D000248:Adenosine Kinase; D011755:Pyrophosphatases