Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.
Eleonora MarchinaMichela FortiMariella TonelliStefania MaccariniFrancesca MalvestitiChiara PiantoniElena FilippiniElisa FazziGiuseppe BorsaniPublished in: Molecular cytogenetics (2021)
Our case provides additional information about phenotypic effects of pure trisomy 18p, confirms chromosomal microarray analysis as gold standard to characterize complex sSMC, and supplies additional elements for genetic counselling.