Article
Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.
American journal of medical genetics - 13 Mar 1995
Spinner N B, Grace K R, Owens N L, Sovinsky L, Pellegrino J E, McDonald-McGinn D, Zackai E
Abstract excerpt
We describe a patient with manifestations of the mosaic trisomy 8 syndrome and mosaicism for a minute marker chromosome. Fluorescence in situ hybridization (FISH) with a chromosome 8 probe confirmed that the marker was derived from chromosome 8. This is the smallest piece of chromosome 8 to be reported in a patient with mosaic trisomy 8 syndrome. When the clinical picture is strongly suggestive of trisomy for a...
Topics
- Chromosome Banding
- Chromosomes, Human, Pair 8
- Genetic Markers
- Humans
- Infant, Newborn
- Male
- Mosaicism
- Phenotype
- Trisomy