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Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

Abstract
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.
AuthorsL Y Shih, L Suslak, I Rosin, B M Searle, F Desposito
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 19 Issue 3 Pg. 539-43 (Nov 1984) ISSN: 0148-7299 [Print] United States
PMID6095663 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Nucleotidyltransferases
  • UTP-Hexose-1-Phosphate Uridylyltransferase
Topics
  • Chromosome Aberrations
  • Chromosome Mapping
  • Chromosomes, Human, 6-12 and X
  • Genes
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Nucleotidyltransferases (genetics)
  • UTP-Hexose-1-Phosphate Uridylyltransferase (genetics)

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