Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities

Mosaic sSMC(8) derived from r(8)(::p12→q13.1::) can present phenotypic abnormalities. Chromosome 8q12 duplication syndrome should be included in differential diagnosis when an sSMC(8) contains 8q12.2 and CHD7.