Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.
A newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY + 9p male control, a 30-year-old woman with mosaic trisomy 9p, a newborn female control infant with complete trisomy 9, and age-matched chromosomally normal control individuals. The findings support previous evidence that the GALT locus is at band p13 of chromosome 9.
D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D005796:Genes; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009713:Nucleotidyltransferases / Q000235:genetics*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase