Optical genome mapping in addition to cytogenetic characterization based on apparently balanced chromosome translocations

We emphasize the importance of a combination of conventional cytogenetics and molecular cytogenomic methods (e.g., OGM) to reveal the cause of monogenic diseases typically caused by single nucleotide variants. The combination of those different techniques in cases of reciprocally balanced translocations involving the FBN1 gene is helpful to understand the extent of the molecular etiology of Marfan syndrome. Thus, it has the potential to identify novel, clinically relevant FBN1 gene abnormalities that expand the diagnostic possibilities in patients with Marfan syndrome.