Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome.
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.
Department of Medical Genetics, Odense University, Denmark.
K
K
Brøndum-Nielsen
S
S
Bajalica
K
K
Wulff
M
M
Mikkelsen
D000015:Abnormalities, Multiple / Q000235:genetics; D002896:Chromosomes, Human, Pair 6; D005260:Female; D015321:Gene Rearrangement; D005819:Genetic Markers; D015698:Genomic Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010641:Phenotype; D013489:Suppression, Genetic; D014314:Trisomy
D005819:Genetic Markers