Table 1.
Mapping of pBkpnt and dBkpnt regions of each duplication by qPCR in the 16 patients
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From the 24 breakpoint regions (<21 kb) analyzed for masked sequences, 14 were highly enriched for IRs. The maximal junction region (junction region max size) is the sum of the maximal size of the pBkpnt and dBkpnt regions (in kb).
(ND) Not determined; (NO) no IRs were found; (—) the pBkpnt regions were not fine-mapped any further because they are located outside the studied 1-Mb interval surrounding MECP2 (153.5 to 154.5 Mb).
