Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1 →qter Tetrasomy in a Mildly Affected Girl

This study adds to the growing list of clinically identified neocentric marker chromosomes and is the first described instance of partial tetrasomy 13q31q34 identified in a mosaic state prenatally. Since NIPS is now being routinely performed along with invasive testing for advanced maternal age, an increased prenatal detection rate for mosaic sSMCs in otherwise normal pregnancies is expected. Future studies investigating how neocentromeres mediate gene expression changes could help identify potential epigenetic targets as treatment options to rescue or reverse the phenotypes seen in patients with congenital neocentromeres.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research