Skip to main content

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