Fig. 2

Genomic studies from patient 18, including a representative interphase cells showing a diminished TCF3 signal suggesting a partial deletion or rearrangement of TCF3, using the TCF3/PBX1 D-FISH probe set. b Metaphase FISH demonstrating the diminished TCF3 signal is retained on chromosome 19p. c Representative karyogram with chromatin of undetermined origin attached to 19p. d MPseq junction plot demonstrating a TCF3/ZNF384 fusion