Figure 1.

Schematic representation of the genomic location and approximate extensions of the observed upstream SHOX deletion. The approximate coordinates are according to chromosome X, NCBI assembly GRCh37 with the upstream enhancers indicated as CNE2, 3 and 5.¹⁰ The MLPA probes are indicated by grey boxes. ^*Two genes/loci that are included in both the commercial and the upstream MLPA assays but the binding sequences are different ▴, the presence of a heterozygous deletion. The deletion size range is indicated adjacent to each individual. The deletion detected in a patient with brachymesomelic dysplasia with Peters anomaly of the eye is also shown.¹⁴ The extension limits were determined according to the reported array and PCR data. Black solid lines indicate deleted sequences, white lines indicate the presence of two copies while hashed lines indicate non-informative areas. The diagram is not drawn to scale.