Shih L Y, Suslak L, Rosin I, Searle B M, Desposito F
Am J Med Genet. 1984 Nov;19(3):539-43. doi: 10.1002/ajmg.1320190316.
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.
一名男婴经GTG显带分析被诊断为9号染色体短臂末端片段重复。对该患者、其母亲（平衡易位携带者）、一名3岁47,XY + 9p男性对照、一名30岁9号染色体短臂嵌合三体女性、一名9号染色体完全三体的新生女婴对照以及年龄匹配的染色体正常对照个体进行了1-磷酸半乳糖尿苷转移酶（GALT）基因剂量研究。这些发现支持了先前关于GALT基因座位于9号染色体p13带的证据。
