Eln

Low copy repeats

Low copy repeats

Low copy repeats

Low copy repeats

Figure 5.3 Region of chromosome 7q11.23 involved in Williams-Beuren syndrome. A cluster of genes (denoted by black arrows) is contained within a 1.5 Mb region deleted in this syndrome; individuals with duplication of the region have also been reported. ELN (elastin), LIMK (LIM domain kinase 1), and GTF2I (general transcription factor II, I) have been associated with Williams-Beuren syndrome. Flanking low copy repeats are shown, each composed of highly homologous blocks of DNA (denoted A, B, C). Almost all deletions occur between the homologous B blocks. Redrawn from Osborne and Mervis (2007), with permission from Cambridge University Press.

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