18 mai The brand new breakpoints consist of p13 to help you p15
Aetiology
The introduction of molecular cytogenetic study (Fluorescence Into the Situ Hybridisation, FISH) provides allowed the fresh new cytogenetic and phenotypic map regarding 5p getting discussed [dos,53-56]. Study off 80 customers and you will 148 mothers in the Italian Registry from CdCS revealed: a good 5p terminal removal (62 patients: 77.5%), a keen interstitial deletion (seven customers: 8.75%), an excellent de ilial translocation (around three customers: step 3.75%), good mosaic with one or two rearranged cellphone outlines (about three customers: 3.75%) and you can a removal from a great paternal inversion (you to diligent: step one.25%). 2 (Fig. ? (Fig.dos) 2 ) . This area includes a great deal of repetitive sequences that will make up the imbalance [55,57]. Molecular data revealed that brand new removed chromosome are paternal for the majority cases: (80%) , (83.3%) , (ninety.2%) .