A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase

• Published in: Human genetics Vol. 67; no. 2; pp. 187 - 189
• Main Authors: SNYDER, F. F, LIN, C. C, RUDD, N. L, SHEARER, J. E, HEIKKILA, E. M, HOO, J. J
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-07-1984; Berlin; New York, NY
• Subjects: Abnormalities, Multiple - enzymology; Abnormalities, Multiple - genetics; Adenosine Kinase - blood; Adenosine Kinase - genetics; Biological and medical sciences; Chromosome aberrations; Chromosome Banding; Chromosomes, Human, 6-12 and X; Erythrocytes - enzymology; Female; Hexokinase - blood; Hexokinase - genetics; Humans; Infant, Newborn; Medical genetics; Medical sciences; Phosphotransferases - genetics; Pyrophosphatases - blood; Pyrophosphatases - genetics; Trisomy; Chromosomal aberration; Human; Gene dosage; Partial trisomy; Enzyme; Red blood cell; Infant; Hexokinase; Inorganic pyrophosphatase; Complex malformation; Adenosine kinase; C10-Chromosome; Abnormal chromosome
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/BF00272998

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.