Table 1. .
No. of Subjects with |
Total |
|||||||||
Population | Study Design | No. of Families | No. of Studied Parents | No. of Unaffected Controls or Siblings |
CPO | CLCP | CLO | Anomalya | Casesb | Samples |
DBS | Case-control | 755 | 0 | 485c | 68 | 0 | 270 | 755 | ||
DCS | Case-parent | 517 | 978 | 664d | 101 | 201 | 156 | 70 | 529e | 2,171 |
Iowa | Case-control triad | 857 |
1,637 |
419c |
110 |
157 |
103 |
42 |
445 |
2,501 |
Total | 2,129 | 2,615 | 1,568 | 279 | 358 | 259 | 112 | 1,244 | 5,427 |
Note.— There were 202 subjects in the DBS who had either CLCP or CLO; the total number of subjects with CLCP and CLO was 819.
OCs that occur together with other anomalies, such as heart disease, extremity anomalies, or anomalies associated with syndromic OC.
Cleft status is not known for some cases, so the numbers of cleft subphenotype will not add to the total number of cases.
Unaffected control.
Unaffected sibling.
A small proportion of families have multiple affected subjects. We randomly selected one affected child for the analysis.