St. Christopher's Hospital for Children, Department of Pediatrics, Temple University Medical School, USA.
Theor Appl Genet. 1973 Jan;43(3-4):134-8. doi: 10.1007/BF00306562.
Using quinacrine fluorescence and Giemsa banding techniques we have identified an extra chromosome 22 in three non-mongoloid children with similar phenotypes and 47 chromosomes. In one of the children, the long arm of the extra 22 was shorter than usual. This 22q-chrcmcscme was observed in 4 normal family members with 46 chromosomes. In a fourth child, with similar physical findings, the extra G chromosome was shown to be neither a normal 21 nor 22. It must have arisen from a rearrangement in a parental gamete since it was not present in either parent's karyotype.No constellation of clinical findings, in association with an extra G chromosome, is sufficient evidence for the diagnosis of trisomy 22. The positive identification of the extra chromosome must be made using fluorescence and banding.
我们使用吖啶橙荧光和吉姆萨带技术在三个具有相似表型和 47 条染色体的非蒙古人种儿童中发现了额外的 22 号染色体。其中一个孩子的额外 22 号长臂比正常的短。这条 22q-chrcmcscme 在 4 个具有 46 条染色体的正常家族成员中被观察到。在第四个具有相似身体发现的孩子中，额外的 G 染色体既不是正常的 21 号也不是 22 号。它一定是来自父母配子的重排，因为它不存在于父母的核型中。没有任何与额外 G 染色体相关的临床发现组合足以诊断为 22 三体。必须使用荧光和带型技术来进行额外染色体的阳性鉴定。
