Urioste M, Visedo G, Sanchís A, Sentís C, Villa A, Ludeña P, Hortigüela J L, Martínez-Frías M L, Fernández-Piqueras J
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Am J Med Genet. 1994 Jan 1;49(1):77-82. doi: 10.1002/ajmg.1320490114.
We have studied a girl, her sister and her mother who had a supernumerary marker chromosome in mosaicism. The marker was studied by cytogenetic methods and non-isotopic in situ hybridization with the single D22S9 DNA probe which maps to 22q11. The supernumerary chromosome was derived from a chromosome 22 and it did not present the same morphology in all the cells. At least 5 distinct types of the marker chromosome were detected and some of them were probably derived from each other (dynamic mosaicism). The proposita had an MCA pattern consistent with mild cat eye syndrome, while her sister and her mother had some of the manifestations described in this syndrome. A specific correlation could be established between phenotype and karyotype.
我们研究了一名女孩、她的姐姐和母亲，她们均存在嵌合型额外标记染色体。通过细胞遗传学方法以及使用定位于22q11的单拷贝D22S9 DNA探针进行非同位素原位杂交对该标记进行了研究。这条额外染色体源自22号染色体，且在所有细胞中呈现出不同的形态。至少检测到了5种不同类型的标记染色体，其中一些可能是由其他类型衍生而来（动态嵌合）。先证者具有与轻度猫眼综合征一致的MCA模式，而她的姐姐和母亲有该综合征所描述的一些表现。可以在表型和核型之间建立特定的关联。
