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%‡ |