Article
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.
American journal of medical genetics. Part A - 1 Mar 2014
Schwanitz Gesa, Hagh Javad Karim Zad, Rad Isa Abdi, Omrani Mir Davood, Gamerdinger Ulrike, Schubert Regine, Elbracht Miriam, Eggermann Thomas, Eggermann Katja, Spengler Sabrina, Schüler Herdit, Gogiel Magdalena
Abstract excerpt
The genetic relevance of small supernumerary marker chromosomes (sSMCs) depends on their content of euchromatin. In case of mosaicism, the phenotype of the carrier furthermore is influenced by the distribution of the marker in the body. In the majority of reported cases no correlation of the degree of mosaicism in the tissue(s) analyzed and the phenotype could be detected. In particular, non-acrocentric derived...
Topics
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 18
- Euchromatin
- Facies
- Female
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence