Abstract
THERE is evidence to suggest that, in human subjects with mosaicism of cell lines normal and trisomic for chromosome 21, phenotypic expression is intermediate between that expected from each of the two cell lines. Moreover, the degree of expression of the trisomic cells (defined as the severity of clinical manifestations of Down's Syndrome (mongolism)) appears to be related to the proportion of trisomic cells1. In this study we investigated whether in tissues with normal/trisomy 21 mosaicism genetic biochemical expression was intermediate between that of the two individual cell lines.
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References
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BENSON, P., LINACRE, B. & TAYLOR, A. Erythrocyte ATP: D-Fructose-6-phosphate I-Phosphotransferase (Phosphofructokinase) Activity in Children with Normal/G Trisomic Mosaic Down's Syndrome and in Normal and Down's Syndrome Controls. Nature 220, 1235–1236 (1968). https://doi.org/10.1038/2201235a0
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DOI: https://doi.org/10.1038/2201235a0
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