Deficiency 10p. Report of a case and exclusion mapping of the hexokinase 1 locus to band 10p11.2.
A patient deficient for most of the short arm of one chromosome 10 is described. The clinical picture is similar to those of other published cases but includes agenesis of olfactory bulbs, an uncommon finding, already noted in few 10p- patients. The normal levels of hexokinase 1 found in the fibroblasts of the patient allow a more precise localization of the gene at band 10p11.2. The results obtained for inorganic pyrophosphatase confirm the data available from two other cases.
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D005347:Fibroblasts / Q000201:enzymology; D006593:Hexokinase / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male
D006593:Hexokinase