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Official Journal of the Human Genome Organisation

Fig. 3 | Genomic Medicine

Fig. 3

From: Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

Fig. 3

Repetitive sequence elements in the vicinity of the microdeletion breakpoints and the secondary structures postulated to have been involved in the genesis of the two mutations. Lower case letters denote deleted nucleotides. (a) Repetitive sequence elements (shown in bold) found in the vicinity of the breakpoints of the 1155_1172del18 microdeletion. (b) Repetitive sequence elements (shown in bold) found in the vicinity of the breakpoints of the 1448_1461del14+29 microdeletion. (c) Schematic representation of the postulated non-B DNA slipped structures at the breakpoint of the 1448_1461del14+29 microdeletion. The nucleotides shown in bold type correspond to the direct repeats shown in (b). Nucleotides circled in grey denote the homology between two breakpoint junctions. The arrows indicate the sequences deleted

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