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 |