✦ LIBER ✦
Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9
✍ Scribed by Shih, Ling Yu ;Suslak, Lorraine ;Rosin, Irit ;Searle, Bernard M. ;Desposito, Franklin
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 255 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.