Article
Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.
American journal of medical genetics - 1 Jan 1994
Urioste M, Visedo G, Sanchís A, Sentís C, Villa A, Ludeña P, Hortigüela J L, Martínez-Frías M L, Fernández-Piqueras J
Abstract excerpt
We have studied a girl, her sister and her mother who had a supernumerary marker chromosome in mosaicism. The marker was studied by cytogenetic methods and non-isotopic in situ hybridization with the single D22S9 DNA probe which maps to 22q11. The supernumerary chromosome was derived from a chrom...
Topics
- Abnormalities, Multiple
- Adult
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 22
- Dwarfism
- Ear
- Female
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Karyotyping
- Mosaicism
- Pedigree
- Phenotype
- Syndrome