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Table 1 Descriptive characteristics of all participants in study

From: Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

Region

Number

% de novoa

Age mean (sd)

Age range (years)

% male

Total

46

60%

10.8(10.1)

0.8–39

52%

AB/AC deletion group

15

86%

8.9(4.2)

2–15

53%

 A-B deletion

11

80%

7.8(3.8)

2–15

55%

 A-C deletion

4

100%

11.8(4.4)

5–14

50%

BD/CD deletion group

18

69%

11.1(10.7)

1–38

50%

 B-D deletion

14

77%

10.4(9.0)

1–38

43%

 C-D deletion

4

33%

13.6(16.9)

0.8–36

75%

BD/CD duplication group

10

13%

14.5(15.2)

1–39

60%

 B-D duplication

8

0%

16.5(16.6)

1–39

63%

 C-D duplication

2

50%

6.5(2.0)

5–7

50%

A-B duplicationb

1

Unknown

7.0

–

0%

E-F duplicationb

2

0%

6.6(2.8)

4–8

50%

  1. Participant characteristics for all individuals with a nested deletion or duplication of 22q11.2, including three case studies with atypical nested duplications noted with superscript b
  2. aPercentage of individuals with known inheritance
  3. bCase studies not included in statistical analysis, medical chart review, or AB/AC and BD/CD group totals