title: Tetrasomy 9p: confirmation by enzyme analysis.
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.
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics; D000782:Aneuploidy; D002478:Cells, Cultured; D002869:Chromosome Aberrations / Q000201:enzymology / Q000235:genetics*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000378:metabolism
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase