Table 2.
Observed and expected counts of individuals with a syndrome diagnosis for whom the top match was another unrelated individual within the same syndrome subgroup
| Syndrome | Number of images for syndrome | Observed match/No match | Expected match/No match | Chi-square (1) | P-value |
|---|---|---|---|---|---|
| Williams | 183 | 110/73 | 11/172 | 938.43 | <.00001 |
| Rubinstein-Taybi | 155 | 92/63 | 7/148 | 1068.28 | <.00001 |
| Floating Harbor | 61 | 42/19 | 2/59 | 806.57 | <.00001 |
| Coffin Lowry | 154 | 88/66 | 7/147 | 969.83 | <.00001 |
| Kabuki | 195 | 106/89 | 12/183 | 776.29 | <.00001 |
| Smith Magenis | 124 | 72/52 | 5/119 | 921.61 | <.00001 |
| PACS1 | 39 | 6/33 | 2/37 | 6.46 | 0.01106 |
| Kleefstra | 128 | 72/56 | 5/123 | 920.40 | <.00001 |
| Koolan-de Vries | 120 | 66/54 | 4/116 | 978.17 | <.00001 |
| Cornelia de Lange | 441 | 329/112 | 53/388 | 1627.70 | <.00001 |