SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease

Figure 4

PARs alterations detected by MLPA. (Up) PARs are depicted with blue lines over sexual chromosome diagram; (middle) name and position (Kb from p-telomere) of each MLPA SALSA P018-G1 probe are indicated with a grey square (diagram not drawn to scale); (down) MLPA analysis result where black triangle (▲) reduced copy number (<2) and inverted black triangle (▼) increased copy number (>2) of the MLPA specific probe. CNE: conserved noncoding elements.