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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Tetrasomy 9p: confirmation by enzyme analysis.

A 4-day-old Caucasian male presented with midline defects of the skull and face and extensive skeletal malformations. Chromosome analysis of peripheral blood lymphocytes showed tetrasomy 9p (47,XY, + i(9p) with no evidence of mosaicism. Confirmation of the cytogenetic interpretation was obtained from the assay of the enzyme galactose-1-P uridyl transferase, the locus for which is on 9p, which showed twice the normal activity.[1]

References

  1. Tetrasomy 9p: confirmation by enzyme analysis. Moedjono, S.J., Crandall, B.F., Sparkes, R.S. J. Med. Genet. (1980) [Pubmed]
 
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