Tetrasomy 9p: confirmation by enzyme analysis.
- 1 June 1980
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (3), 227-230
- https://doi.org/10.1136/jmg.17.3.227
Abstract
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.Keywords
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