Figure 1. .
Identification of the common duplication and differentiation from unusual-sized duplications by PFGE analysis. An ∼1.1-Mb novel junction (jct) fragment was predicted for the common duplication after the genomic DNA was digested with NotI, was separated by PFGE, and was probed with a genomic fragment from the CLP gene. An asterisk (*) indicates the subjects who harbor this junction fragment. Junction fragment data from subject 1192 was reported elsewhere.6 Subject 2555 is shown in both gel segments. The ∼1.1-Mb junction fragment was not observed in the parents, which is consistent with a de novo event. A junction fragment was not observed in 13 of the 35 subjects, indicating that those 13 have unusual-sized duplications.