Fig. 2

Further molecular characterisation of both rare CNVs. a Fibre FISH images from normal X chromosome from mother (upper) and duplicated X chromosome from proband (lower). Schematic shows DMD duplicons alongside position of primers used for long-range PCR. b Interphase and metaphase FISH images from proband for the TRPM3 locus. The deleted chromosome 9 is missing the signal from the RP11-89K20 probe (green). c Electropherograms with breakpoint-spanning sequences across the DMD duplication (upper) and TRPM3 deletion (lower)