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a MLPA analysis detects two distinct noncontiguous microdeletions involving exons 4–7 and 31–35 respectively of NF1 gene. b OGM analysis discloses the presence of a 68.5 Kb intragenic inversion having the two microdeletions as breakpoints. The patient optical map is aligned and compared with the reference optical map. Molecular labels are reported as vertical lines on both patient’s and reference’s maps.
