Table 1.
Demographic and Clinical Characteristics of the 22q11.2DS Cohort
| Variables | No. (%) for Categorical Variables for All 1,053 Samples | No. (%) for Categorical Variables for 893 Samples in the Main Studied CTD Cohort |
|---|---|---|
| Gender | ||
| Male | 512 (48.6%) | 430 (48.2%) |
| Female | 541 (51.4%) | 463 (51.8%) |
| Deletion Type | ||
| AD | 1,053 (100%) | 893 (100%) |
| CHD Statusa | ||
| Normal heart | 469 (44.5%) | 469 (52.5%) |
| CTD | 424 (40.3%) | 424 (47.5%) |
| CHD | 584 (65.0%) | NA |
| TOF-PTA-IAAB | 284 (26.9%) | NA |
| TOF | 194 (18.4%) | NA |
| ASD alone | 55 (5.2%) | NA |
| VSD alone | 105 (10.0%) | NA |
| Population Origin | ||
| Caucasian | 790 (75.2%) | 669 (74.9%), 312:357c |
| AAb and admixed | 161 (15.3%) | 135 (15.1%), 68:67c |
| Hispanic | 102 (9.7%) | 89 (10.0%), 44:45c |
a
Definition of CHD phenotypes: patients are coded as cases for the specific CHD categories if they satisfied the corresponding definitions. Controls are those with no heart or aortic-arch anomalies. CTD, conotruncal heart defect; TOF, tetralogy of Fallot; PTA, persistent truncus arteriosus; and IAAB, interrupted aortic arch.
b
AA, African-admixed.
c
Ratio of CTD affected individuals to controls.