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Single‐molecule optical mapping analysis of twins 67‐V and 68‐V with suspected FSHD1. BssSI maps (vertical green bars) of a 4qB allelic variant with a 88 kb duplication (purple) in association with either a normal 4qA or 4qB allele (orange). The duplicated regions are indicated by red and green boxes. The final deduced structure of the allelic variant is represented in the top profile with the duplicated regions indicated by red bars and the altered D4Z4 array repeats by blue bars
