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Table 1 Clinical characteristics of 14 patients with a deletion in the downstream enhancer region of SHOX

From: Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

Patient Age(sex) Shoxdeletion (mlpa probes) Arm Span/Height ratio (<96.5%) Sitting height/Height ratio (>55.5%) BMI (>50°C) Cubitus Valgus Short forearm Bowing forearm/tibia Muscular hypertrophy Dislocation of ulna at the elbow Total score
FAMILY 1            
n.1 12y10m (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 96.7% (0) 53% (0) <50°c (0) Absent (0) Present (3) Absent (0) Present (3) Absent (0) 6
n.2 49y (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 93% (2) 48% (0) > 50°c (4) Absent (0) Present (3) Absent (0) Present (3) Absent (0) 12
FAMILY 2            
n.3 3y11m (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 100% (0) 53% (0) >50°c (4) Present (2) Present (3) Absent (0) Present (3) Absent (0) 12
n.4 39y (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 98% (0) 41.9% (0) >50°c (4) Present (2) Present (3) Absent (0) Present (3) Absent (0) 12
n.5 10y (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 100% (0) 47.8% (0) >50°c (4) Present (2) Present (3) Absent (0) Present (3) Absent (0) 12
n.6 46y (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 98% (0) 47.2% (0) <50°c (0) Present (2) Present (3) Absent (0) Present (3) Absent (0) 8
n.7 48y (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 96% (2) 49% (0) >50°c (4) Absent (0) Present (3) Absent (0) Present (3) Absent (0) 12
FAMILY 3            
n.8 30y (F) homozygous del 13296-L15336, 05645-L05099 and 05646-L15507 98% (0) 54% (0) <50°c (0) Present (2) Present (3) Present (3) Present (3) Present (5) 16
n.9 2y10m (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 94% (2) 56.9% (2) <50°c (0) Absent (0) Present (3) Absent (0) Absent (0) Absent (0) 7
n.10 11 m (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 94% (2) 58.3% (2) <50°c (0) Absent (0) Present (3) Absent (0) Absent (0) Absent (0) 7
n.11 54y (F) heterozygous del 13296-L15336, 05645-L05099 and 05646-L15507 100% (0) 52% (0) <50°c (0) Present (2) Present (3) Absent (0) Present (3) Absent (0) 8
FAMILY 4            
n.12 14,7y (F) heterozygous del 05645-L05099 97% (0) 50% (0) >50°c (4)° Present (2) Absent (0) Absent (0) Present (3) Absent (0) 9
n.13 11y (F) heterozygous del 05645-L05099 97% (0) 48% (0) >50°c (4) Present (2) Absent (0) Absent (0) Present (3) Absent (0) 9
n.14 42y (F) heterozygous del 05645-L05099 93% (2) 50% (0) >50°c (4) Absent (0) Present (3) Absent (0) Present (3) Absent (0) 12