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.

• Authors: S J Moedjono, B F Crandall, R S Sparkes
• Journal: Journal of medical genetics (J Med Genet) Vol. 17 Issue 3 Pg. 227-30 (Jun 1980) ISSN: 0022-2593 [Print] England
• PMID: 7401135 (Publication Type: Case Reports, Journal Article)

Chemical References

• UTP-Hexose-1-Phosphate Uridylyltransferase

Topics

• Abnormalities, Multiple (enzymology, genetics)
• Aneuploidy
• Cells, Cultured
• Chromosome Aberrations (enzymology, genetics)
• Chromosome Disorders
• Chromosomes, Human, 6-12 and X
• Humans
• Infant, Newborn
• Karyotyping
• Lymphocytes (ultrastructure)
• Male
• UTP-Hexose-1-Phosphate Uridylyltransferase (metabolism)