Fig. 3

Balanced X-autosome translocation disrupts the NHS gene. a CMA analysis defines the breakpoint on chromosome X between chrX: 17,579,976–17,597,135, disrupting the NHS gene, using the genomic imbalance related to the unbalanced translocation in the proband. The SureFISH NHS dual color breakapart probes flanking the breakpoint are indicated (not to scale). 5’ NHS SG probe: chrX: 16,968,549–17,396,454; 3’ NHS SO probe: chrX: 17,753,424–18,156,264. Arrow indicates the breakpoint. b Metaphase FISH analysis shows that in the proband, the normal chromosome X is labeled by both 5’ NHS and 3’ NHS, while the derivative chromosome X is only labeled by 3’ NHS. c Chromosome G-banding analysis identified a balanced X-autosome translocation involving chromosome X and chromosome 19 in the maternal half-sister (III-2). d Metaphase FISH analysis shows that in III-2, the normal chromosome X is labeled by both 5’ NHS and 3’ NHS, while the derivative chromosome X is labeled by 3’ NHS and the derivative chromosome 19 is labeled by 5’ NHS. Blue, DAPI counter-staining; SG, spectrum green; SO, spectrum orange