Brøndum-Nielsen K, Bajalica S, Wulff K, Mikkelsen M
Department of Medical Genetics, Odense University, Denmark.
Clin Genet. 1993 May;43(5):235-9. doi: 10.1111/j.1399-0004.1993.tb03809.x.
We report the application of chromosome painting using FISH (fluorescence) in situ hybridization) to demonstrate the origin of a de novo 6q+ marker chromosome. A girl with a mental retardation/multiple malformation syndrome was shown to have the karyotype 46,XX, 6q+. Banding analysis could not determine the origin of the extra chromosomal material. Using FISH with a chromosome-6-specific library we showed that the marker chromosome was completely painted, indicating an origin from chromosome 6. The child's phenotype was compared with previously reported cases with partial chromosome 6 trisomy. A clinically recognized syndrome emerged, although she apparently also demonstrated novel features.
我们报告了使用荧光原位杂交（FISH）进行染色体描绘，以证明一条新发的6q+标记染色体的起源。一名患有智力发育迟缓/多重畸形综合征的女孩，其核型为46,XX, 6q+。染色体显带分析无法确定额外染色体物质的起源。通过使用针对6号染色体的特异性文库进行FISH，我们发现标记染色体被完全描绘，表明其起源于6号染色体。将该患儿的表型与先前报道的部分6号染色体三体病例进行了比较。尽管她显然也表现出一些新特征，但仍出现了一种临床可识别的综合征。
