Fig. 2

Pedigree information and Sanger verifying results [32]. (a) In this pedigree, WT indicates a normal allele. M1 represents the balanced translocation t(2;6)(q37.1-37.3;q25.3-27). M2 represents the unbalanced translocation del(2)(q37.1-37.3)chr2:g.232963568-24305260del and dup(6)(q25.3-27)chr6:g.158730978-170930050dup. Proband (IV4) is indicated by the arrow. (b) Circle map showing the balanced translocation between chromosome 2 and chromosome 6. (c) III1 shows the balanced translocation between chromosome 2 and chromosome 6 of the proband’s father. IV4 shows the unbalanced translocation between chromosome 2 and chromosome 6 of the proband, with 2q monosomy and 6q trisomy. (d) PCR products including the chromosome rearrangement site of the breakpoint. The proband (IV4) shows three bands at 1000 bp, the proband’s father (III1) shows four bands at 1000 bp, and the mother (III2) and the normal control show two bands without a rearrangement breakpoint. (e) Sanger sequencing identifying the chromosome rearrangement breakpoint: chr2:232963567/chr6:158730978 and chr6:158730976/chr2:232963569