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.
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Authors | L Y Shih, L Suslak, I Rosin, B M Searle, F Desposito |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 19
Issue 3
Pg. 539-43
(Nov 1984)
ISSN: 0148-7299 [Print] United States |
PMID | 6095663
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Nucleotidyltransferases
- UTP-Hexose-1-Phosphate Uridylyltransferase
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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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