| First Author | Snyder FF | Year | 1984 |
| Journal | Hum Genet | Volume | 67 |
| Issue | 2 | Pages | 187-9 |
| PubMed ID | 6146563 | Mgi Jnum | J:22898 |
| Mgi Id | MGI:71390 | Doi | 10.1007/BF00272998 |
| Citation | Snyder FF, et al. (1984) A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum Genet 67(2):187-9 |
| abstractText | 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. |
