Table 1 Phenotypic features of individuals with CNVs and SNVs in 17p13.3 in the present study and published studies and result of the Chi-square test

Sex

Male

10/20 (50.0)

4/7 (71.4)

8/11 (72.7)

59/107 (55.1)

59/108(54.6)

-

-

Female

10/20 (50.0)

3/7 (28.6)

3/11 (27.3)

52/107 (48.5)

49/108(45.4)

-

-

Test Age

0–1 year

1 year– 18 years

> 18 years

10/20 (50.0)

10/20 (50.0)

0/20 (0)

1/7 (14.3)

6/7 (85.7)

0/7 (0)

7/11 (63.6)

4/11 (36.4)

0/11 (0)

3/79 (3.8)

69/79 (87.3)

7/79 (8.9)

4/63(6.3)

49/63(77.8)

10/63(15.9)

-

-

-

-

-

-

Clinical Characteristics

Neurodevelopmental abnormalities

Developmental delay

Intellectual disability

Speech delay

Motor delay

Behavioral abnormalities

Seizures/Epilepsy

Lissencephaly

Other brain MRI abnormalities

14/20 (70.0)

1/20 (5.0)

6/20 (30.0)

13/20 (65.0)

0/20 (0)

8/20 (40.0)

13/20 (65.0)

3/20 (15.0)

6/7 (85.7)

1/7 (14.3)

5/7 (71.4)

3/7 (42.9)

3/7 (42.9)

0/7 (0)

0/7 (0)

2/7 (28.6)

9/11 (81.8)

1/11 (9.1)

6/11 (54.5)

8/11 (72.7)

0/11 (0)

6/11 (54.5)

7/11 (63.6)

3/11 (27.3)

58/79 (73.4)

44/67 (65.6)

25/69 (36.3)

11/53 (20.8)

4/64 (6.25)

40/78 (51.3)

128/144 (88.9)

60/144 (41.7)

52/78(66.7)

43/69(62.3)

15/36(41.7)

17/37(45.9)

25/56(44.6)

7/74(9.5)

0/71 (0)

35/71 (49.3)

0.445

0.041

1.668

1.851

33.288

33.900

160.681

1.774

0.520

0.873

0.253

0.237

0.000

0.000

0.000

0.209

Structure abnormalities

Facial malformation

Short stature

Hand and foot abnormalities

Cardiac abnormalities

2/20 (10.0)

3/20 (15.0)

0/20 (0)

4/20 (20.0)

1/7 (14.3)

0/7 (0)

2/7(28.6)

0/7 (0)

2/11 (18.2)

0/11 (0)

1/11 (9.1)

0/11 (0)

76/107 (71.0)

43/70 (61.4)

33/77 (42.9)

13/73 (17.8)

46/75(60.0)

9/75(12.0)

76/118(64.4)

-

0.348

31.776

17.595

-

0.555

0.000

0.000

-