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Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome |
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| Authors: | Karen Brendum-Nielsen Svetlana Bajalica Karl Wulff Margareta Wikkelsen |
| Institution: | Department of Medical Genetics, Odense University, Stockholm, Sweden;Department of Pediatrics, Odense Hospital, Stockholm, Sweden;Department of Clinical Genetics, Karolinska Institute, Stockholm, Sweden;Department of Medical Genetics, The John F Kennedy Institute, Glostrup, Denmark |
| Abstract: | Brøndum-Nielsen K, Bajalica S, Wulff K, Mikkelsen M. Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome. Clin Genet 1993: 43: 235–239. © Munksgaard, 1993 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. |
| Keywords: | chromosome painting chromosome 6 duplication fluorescence in situ hybridization |