29 apr. The brand new breakpoints cover anything from p13 to help you p15
Aetiology
The introduction of molecular cytogenetic analysis (Fluorescence For the Situ Hybridisation, FISH) have enjoy the new cytogenetic and you can phenotypic map from 5p getting discussed [2,53-56]. Data off 80 patients and you can 148 parents on the Italian Registry from CdCS shown: an effective 5p terminal removal (62 people: 77.5%), a keen interstitial deletion (seven clients: 8.75%), a de ilial translocation (around three clients: 3.75%), a beneficial mosaic which have one or two rearranged phone lines (about three clients: step three.75%) and you can a deletion from a paternal inversion (you to definitely patient: step one.25%).