eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature

Chromosome microarray technology has disclosed an increasing number of submicroscopic copy number variants for which interpretation of pathogenicity can be difficult. One useful approach is comparison of phenotypic findings among individuals with similar genotypes, both within families and in unrelated individuals. Delineation of pathogenicity can pose a difficult challenge when information on a given submicroscopic copy number variant is scarce, or conflicting. Certain cytogenetic locations appear prone to copy number variation, considered to be mediated by flanking highly homologous duplicated regions.