Figure 1. Schematic representation of the SHOX locus and the surrounding enhancer regions.

Schematic representation of the SHOX locus and location of the 3’-flanking PAR1 probes of the P018-D1 MLPA kit (MRC Holland). Extent of the deletions (blue bars) and the number of families (n) is indicated with the number of affected individuals between brackets. The SHOX gene is indicated with a purple box. The PAR1 probes are indicated with an * and the four downstream enhancers (ECN4, ECN5, ECR1/CNE7 and CNE9) are indicated with green or red (the enhancer within the 47.5 deletion) triangles. The deletion described by Sabherwal includes PAR1 probes L05096-l L05101.