Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization

Background: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, and their characterization exclusively by banding cytogenetics is almost impossible. Multicolor fluorescence in situ hybridization approaches for their characterization are effective but expensive and time-consuming. Recently, the application of molecular karyotyping has resulted in improving the characterization of sSMC. Methods: Molecular karyotyping was used for the identification of a sSMC in this study. Results: In this case report, a fetus with a SMC derived from chromosome 11 is described. Conclusions: Molecular karyotyping is suited for sSMC characterization of prenatal cases. The obtained molecular data can directly be used to compare the actual case with data from the literature available on http://ssmc-tl.com/sSMC.html.