Table 1 Clinical findings observed in patients with DGS with deletion del(22)(q11.2q11.2) in the different countries

Number of patients

22

11

24

15

72

Ethnic group

15 Caucasian

7 multiracial

11 Gujaratis

24 North African

15 Caucasian

72

Clinical findings

Dysmorphic features

14 (63%)

3 (28%)

19 (79%)

8n (53%)

44 (61%)

Multiple congenital anomalies

1(9%)

3 (20%)

4 (6%)

Learning disability/ mental retardation/ developmental delay

10 (45%)

3 (27%)

12 (50%)

6 (40%)

31 (43%)

Cardiovascular (conotruncal/other)

14 (64%)

7 (64%)

20 (83%) *

8 (53%)

49 (68%)

Hypernasal speech (crying) and/or nasal regurgitation

4 (18%)

1 (6%)

5 (7%)

T cells low and/or impaired function. Timus hypoplasia/ aplasia

13 (59%)

2 (18%)

8 (33%)

23 (32%)

Hypocalcemia and/or hypoparathyroidism

2 (9%)

3 (28%)

12 (50%)

1 (6%)

18 (25%)

Gastroesophageal reflux

2 (9%)

1 (6%)

3 (4%)

Structural urinary tract anomaly

1 (4%)

2 (8%)

1 (6%)

4 (6%)

Recurrent seizures

2 (9%)

1 (9%)

6 (25%)

3 (20%)

11 (15%)

Failure to thrive

2 (9%)

2 (18%)

4 (6%)

Childhood disorders (e.g., attention deficit, autism spectrum disorders)

1 (6%)

1 (1%)

Other rare features

Choledochal cysts

Deformed thumb, spinal dysraphism hemivertebra

sandal gap between 1st and 2nd toe

Flat foot, bilateral valgus, dental caries, extrophy of left eye with strong myopia and astigmatism

Short stature