Liehr T, Pfeiffer R A, Trautmann U
Institut für Humangenetik, Friedrich-Alexander Universität, Erlangen-Nürnberg, Germany.
Clin Genet. 1992 Aug;42(2):91-6. doi: 10.1111/j.1399-0004.1992.tb03146.x.
Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH. Using a genomic library, and also a centromeric and particularly a cosmid probe of 22q11, partial tetrasomy was shown in all cases.
据报道，有3名儿童患有典型的猫眼综合征（CES），另有3名儿童因无虹膜缺损而患有部分CES，通过荧光原位杂交（FISH）研究了他们的额外标记染色体。使用基因组文库以及22q11的着丝粒探针，特别是黏粒探针，在所有病例中均显示出部分四体性。
