Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.
Thomas LiehrIsolde SchreyerAlma KuechlerEmmanouil ManolakosSylke SingerAndreas DufkeKathleen WilhelmTereza JančuškováRadek ČmejlaMoneeb A K OthmanAhmed H Al-RikabiKristin MrasekMonika ZieglerStefanie KankelKatharina KreskowskiAnja WeisePublished in: Molecular cytogenetics (2018)
The new, here suggested three color FISH approach is suited for more comprehensive parental studies of patients with MMS. The detection rate for parental origin was increased by 140% in this study. Still, for 30/81 cases (37%) no reason for the 'de novo' MMS in the affected index patient could be found by the here suggested FISH-probe set.