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Structure of the SMN2–SMN1 hybrid detected in patients SMA4 and SMA39. PSVs were genotyped in all patients. In SMA4 and SMA39, six SMN1 PSVs located in intron 6 (Chr5: 69370451‐69370895) were detected, which indicates the presence of hybrid genes. The AB ratio indicates that in SMA04, two of the three copies are SMN2–SMN1 hybrids (SMN1 PSVs in 66%) while in SMA39, only one of the three copies is an SMN2–SMN1 hybrid (SMN1 PSVs in 33%). PSV, paralogous sequence variant
