Fig. 2

Example of one DMD CNV detected by NIPS. (a) Ideogram of chromosome X highlighting the Xp21.2-p21.1 region encompassing the DMD gene. (b) NIPS CNV result, represented as red bar, with the corresponding exons tracks included in the DMD CNV call. (c) Array-comparative genomic hybridization (array-CGH) result showing the refinement of DMD CNV size. Image of array-CGH data was extracted from CytoSureTM Interpret software. CNV copy-number variation; NIPS noninvasive prenatal screening.