Article
Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.
Cytogenetic and genome research - 1 Jan 2009
Melo J B, Matoso E, Polityko A, Saraiva J, Backx L, Vermeesch J R, Kosyakova N, Ewers E, Liehr T, Carreira I M
Abstract excerpt
Small supernumerary marker chromosomes (sSMC) derived from chromosome 16 are rare and, so far, it is not yet clear which regions of chromosome 16 are critical and have clinical consequences. We have characterized two cases with a ring-shaped sSMC derived from chromosome 16. In case A the sSMC was encountered prenatally and was characterized using centromeric fluorescence in situ hybridization (FISH) probes,...
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