A study from 2016 used karyotyping/WGS to characterise a homozygous 66 Mb inversion that lies 523 kb upstream of HOXA13, found in a patient with hand-foot-genital syndrome.21 Given that studies using mouse limb cells suggest that expression of HoxA genes can be controlled by enhancer elements located 5′ of the gene cluster,22 the authors suggested that the large pericentric inversion might dysregulate the spatial/temporal expression of HOXA13. The gene discussed is HOXA13; the disease is hand-foot-genital syndrome.