MLPA
MLPA revealed a cxSV in III4. Not only did he carry the already known deletion of exons 45-54 but also a duplication of exons 38-43 (Figure 1B). Nevertheless, II1, II3 and III1 only inherited the duplication involving exons 38-43 (data not shown). These results are in concordance with the ones observed in the haplotype assay.