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Figure 2 | BMC Medical Genetics

Figure 2

From: Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Figure 2

DMD-CGH array profile in carriers 16 and 8. A) In carrier 16, a deletion of 3.5 Mb was detected (chrX:g.(28.671.682_28.671.742)_(32.170.481_32.170.541)del). The 5’ breakpoint is located within intron 43 of the DMD gene and deletion covers the following downstream genes: FTHL17, MAP3K7IP3, GK, CXorf21, NR0B1, MAGEB4, MAGEB3, MAGEB2, MAGEB1, IL1RAPL1. B) In carrier 8, CGH analysis confirmed a non-contiguous duplication involving exons 1P-7 (chrX:g.(33.068.711_33.068.771)_(32.684.693_32.684.750)dup) and exons 13–42 (chrX:g.(32.523.766_32.523.826)_(32.228.415_32.228.475)dup). A polymorphic CNV is also visible within intron 2.

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BMC Medical Genetics

ISSN: 1471-2350

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