The molecular diagnosis of FA was delayed in our patient due to the unique composition of a deletion and duplication along identical aluY elements within the locus of UBE2T. Remarkably, not a single base was clearly mutated in our patient compared with the UBE2T genomic sequence from the GRCh38.p2 genome assembly by Sanger or whole exome sequencing on either the maternal or the paternal UBE2T allele. Here, UBE2T is linked to Friedreich ataxia.