Figure 2
From: Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
Female 39-year-old: Bilateral forearm radiographs show triangularization of distal epiphysis and bowing of diaphysis of radius bilaterally; distal radio-ulnar articulations appeared radiographically lucent. Palmar subluxation of the left carpus (A-D). Female 6-year-old: Left forearm radiography shows triangularization of distal epiphysis and bowing of diaphysis of radius, radiolucency of distal radio-ulnar articulation (E). Madelung deformity of family 3 index case (n.8) (F). The lower panel showes MLPA assay results. (G) Control: Normal peaks were classified as showing a ratio of 0.65-1.35 (H) Heterozygous deletion of the 13296-L15336, 05645-L05099 and 05646-L15507. MLPA probes have a ratio < 0.65. (I) Homozygous deletion of the 13296-L15336, 05645-L05099 and 05646-L15507 MLPA probes showing a ratio = 0. (L) Heterozygous deletion of the 05645-L05099 MLPA probes.