Fig. 1

Cytogenetic analysis in the proband and her mother. a SNP array analysis in the proband’s peripheral blood showed terminal mosaic duplication of chromosome 3 (3p26.3->3p26.1) on the upper panel and terminal mosaic deletion of chromosome 12 (12p13.33->12p13.31) in the lower panel. brk (in red): breakpoints resulting in derivative 12; rec: meiotic recombination site on chromosome 3 (in blue) and mitotic recombination site on chromosome 12 (in brown). b Metaphase FISH analysis in the proband’s peripheral blood detected a subtelomeric signal of 3p (green) translocated to chromosome 12p (visualized by centromere signal shown in red). c Chromosome analysis from the proband’s mother’s peripheral blood showed the balanced translocation between chromosome 3 and chromosome 12. Arrows are pointing to the translocated chromosomes