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Table 1 Demographic information and clinical diagnoses

From: Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

Dx

No subjects

Gender

Age range

Deletion

Severity

Phenotypes

    

Range

Type

 

IQn = 78

ADHDn = 79

Seizuresn = 79

CHDn = 80

Hypocalcemian = 78

Thyroid abnormalitiesn = 79

22q

80

M = 48 F = 32

M = 7-15 F = 8-15

PRODH-D22S936

3 Mb deletion

Normal

45 (58%)

47 (59%)

59 (75%)

38 (47%)

50 (64%)

62 (78%)

Abnormal

27 (35%)

26 (33%)

14 (18%)

36 (45%)

22 (28%)

11 (14%)

PRODH-DGCR6L

1.5 Mb deletion

Normal

1 (1.3%)

0

2 (2.5%)

2 (2.5%)

3 (4%)

3 (4%)

Abnormal

2 (3%)

3 (4%)

1 (1.3%)

1 (1.3%)

0

0

TUPLE1-SHGC-2421

Atypical deletion

Normal

1 (1.3%)

0

0

0

0

1 (1.3%)

Abnormal

0

1 (1.3%)

1 (1.3%)

1 (1.3%)

1 (1.3%)

0

TUPLE1-D22S936

Atypical deletion

Normal

1 (1.3%)

1 (1.3%)

1 (1.3%)

1 (1.3%)

1 (1.3%)

1 (1.3%)

Abnormal

0

0

0

0

0

0

ZNF74-D22S936

Atypical deletion

Normal

0

1 (1.3%)

1 (1.3%)

1 (1.3%)

1 (1.3%)

1 (1.3%)

Abnormal

1 (1.3%)

0

0

0

0

0

TD

15

M = 8 F = 7

M = 8-14 F = 9-13

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

  1. Demographic information, size of the deletion, Number and percent of individuals presenting with specific clinical involvement including IQ, ADHD, seizures, CHD, hypocalcemia and thyroid abnormalities are shown.