RT Journal Article
SR Electronic
T1 Tetrasomy 9p: confirmation by enzyme analysis.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 227
OP 230
DO 10.1136/jmg.17.3.227
VO 17
IS 3
A1 Moedjono, S J
A1 Crandall, B F
A1 Sparkes, R S
YR 1980
UL http://jmg.bmj.com/content/17/3/227.abstract
AB 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.