Table 1 22q11.2 cases from the 22q and You Center at the Children’s Hospital of Philadelphia registry and from the UK charity Max Appeal.

From: Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

Patient age (years)

LZTR1-deleted

LZTR1 nondeleted

FISH/unknown

UK Max Appeala

n

% (All)

% (Known)

n

% (All)

% (Known)

n

% (All)

% (Known)

n

% (All)

0 to 18

545

72%

88%

75

10%

12%

132

18%

–

1,013

60%

19 to 29

298

59%

91%

31

6%

9%

175

35%

–

292

17%

30 to 49

134

65%

94%

9

4%

6%

64

31%

–

220

13%

50+

24

67%

86%

4

11%

14%

8

22%

–

170

10%

Deceased/unknown

25

44%

81%

6

11%

19%

26

46%

–

  

Total

1,026

66%

89%

125

8%

11%

405

26%

–

1,695

 
  1. FISH fluorescence in situ hybridization.
  2. aUK Max Appeal cases where self-reported and presence or absence of deletion of LZTR1 was unknown. Furthermore, no record assessment or confirmation of the 22q11.2 deletion was possible. Survey was carried out by Twitter, Facebook, and email between 1 and 30 October 2020.
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