Article
Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome.
Clinical genetics - 1 May 1993
Brøndum-Nielsen K, Bajalica S, Wulff K, Mikkelsen M
Abstract excerpt
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 de...
Topics
- Abnormalities, Multiple
- Chromosomes, Human, Pair 6
- Female
- Gene Rearrangement
- Genetic Markers
- Genomic Library
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Intellectual Disability
- Karyotyping
- Phenotype
- Suppression, Genetic
- Trisomy