Clinical symptoms of cat eye syndrome in this case and other published cases with an interstitial duplication of chromosome 22,9–11,13,14 compared to the frequency of the respective symptoms in cat eye cases associated with the typical marker chromosome as determined in two reviews2,15
| Clinical features | This case | Reiss et al9 | Knoll et al10 | Lindsay et al11 | Taylor et al13 | Fujimoto and Lin14 | Behrends et al2 | Rosias et al15 |
|---|---|---|---|---|---|---|---|---|
| Karyotype | Interstitial duplication (partial trisomy 22q) | Bisatellited marker chromosome (partial tetrasomy 22q) | ||||||
| inv dup (22q11.2) | dup(22q11.1 6q11.2) | dup(22q11.2 6q12) | dup(22q11 6q12) | dup(22q11 6q13)? | dup(22q11.26q 13.1 | idic(22) (pter6q11.2::q11.26pter) | ||
| *Only renal malformation; | ||||||||
| †low set or dysplastic; | ||||||||
| ‡skeletal or orthopaedic anomalies; | ||||||||
| NI, not indicated. | ||||||||
| Major anomalies: | ||||||||
| Preauricular anomalies | + | + | + | + | − | + | 81% | 86% |
| Ocular coloboma | + | + | − | − | − | − | 55% | 61% |
| Anal anomalies | + | − | − | − | − | − | 73% | 81% |
| Congenital heart defects | + | − | + | + | − | − | 50% | 63% |
| Urogenital malformations | + | − | + | + | − | + | 31%* | 71% |
| Minor anomalies: | ||||||||
| Downward slanting palpebral fissures | + | + | + | − | + | − | 47% | 68% |
| Microphthalmia | + | + | − | − | + | − | 19% | 39% |
| Hypertelorism | + | + | + | + | + | − | 38% | 70% |
| Low set ears | + | − | − | − | − | − | 19% | 69%† |
| Flattened nasal bridge | + | + | + | − | + | − | 14% | NI |
| Strabismus | + | − | − | − | − | − | 25% | NI |
| Micro/retrognathia | + | − | − | + | − | − | 27% | 56% |
| Epicanthic folds | − | − | + | − | + | − | 26% | 65% |
| Skeletal anomalies | − | − | − | − | − | − | 29% | 73%‡ |