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Table 1 Clinical characteristics of second generation subjects and parents carrying the 22q11.2 deletion

From: Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

 

Second generation

Parents

 

Total number of subjects

32

26

 
 

N (%)

N (%)

p

Facial anomalies

29 (90.6)

24 (92.3)

1

Congenital heart defect

20 (62.5)

2 (7)

<0.0001

Ca-P abnormalities

12 (37.5)

1 (3.8)

0.0033

Palatal anomalies

18 (56.2)

13 (50)

0.79

ENT anomalies

4 (12.5)

2 (7)

0.68

Renal disorders

7 (21.8)

2 (7)

0.16

Ocular disorders

1 (3.1)

6 (23)

0.037

Neurological disorders

3 (9.3)

1 (3.8)

0.62

Dental anomalies

8 (25)

10 (38.4)

0.39

Skeletal anomalies

15 (46.8)

10 (38.4)

0.6

Gastrointestinal disorders

8 (25)

2 (7)

0.16

Psychiatric disorders

4 (12.5)

9 (34.6)

0.06

Language delay

24 (75)

12 (46.1)

0.031

Developmental delay

23 (71.8)

11 (42.3)

0.032

Learning difficulty

23 (71.8)

16 (61.5)

0.57

Autoimmunity

4 (12.5)

5 (19.2)

0.71

Infections

9 (28.1)

3 (11.5)

0.19

  1. Only severe infections (sepsis, pneumoniae), requiring hospitalization, or history of recurrent infections were considered. Bold indicate P values considered statistically significant.