Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 New cases and a review of the literature

Abstract

99% of the cases, there are also exceptional reports on sSMCT derived from one of the autosomes. The majority of sSMCT(X) form ring chromosomes, while most sSMC T(Y) are inverted duplicated/isodicentric chromosomes. Although >500 sSMCT are reported, a detailed characterization of the chromosomal breakpoints is only given for a minority. Thus, more cases with detailed (molecular) cytogenetic marker chromosome characterization are needed to provide information on formation and effects of an sSMCT. Copyright © 2008 S. Karger AG.