Mosaic ring chromosome 8: clinical and array-CGH findings in partial trisomy 8.

摘要

Small supernumerary marker chromosomes (sSMC) are present in 0.05% of newborn infants and in 0.08% of cases screened with standard prenatal cytogenetic methods [Liehr et al., 2007]. One clinically significant group of sSMC consists of supernumerary ring chromosomes (SRCs). SMCs and SRCs originating from chromosome 8 represent a heterogeneous group due to the difference of the chromosomal segment implicated. Only in a few cases an approximate characterization of the segment involved in ring/marker formation by molecular cytogenetics (FISH) has been provided [Batanian et al., 2000; Demori et al., 2004].