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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.