Somatic mosaicism of an intragenic <i><scp>FANCB</scp></i> duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

Abstract

Unlike sequence point variants, intragenic duplications are difficult to precisely define, accurately quantify, and may be very unstable, challenging the proper diagnosis. The reversion of genomic duplication to the WT allele results in somatic mosaicism and may explain the relatively milder phenotype displayed by the FA-B patient described here.