Table 1.
Previously Reported Cases of Partial Trisomy 1q and Partial Monosomy 21q.
| Clinical features | dup1q43q44 & del21q22.2q22.3(Beata et al.) | dup1q42.3qter & del21q22.3qter(Tuschl et al.) | dup1q41qter & del21q22.2qter(the present case) |
|---|---|---|---|
| Development delay | + | + | + |
| Intellectual disability | + | NA | + |
| Finger anomalies | Arachnodactyly | 5th finger clinodactyly | Arachnodactyly |
| Toe anomalies | NA | Syndactyly | 1st finger clinodactyly |
| Scoliosis | – | – | + |
| Kyphosis | – | – | + |
| Macrocephaly | + | – | – |
| Microcephaly | – | + | – |
| Broad nasal bridge | NA | + | + |
| Ear anomalies | Narrowing external auditory canal | Low set, hypoplastic ear | Normal |
| Joint hypermobility | + | NA | Normal |
| Seizures | + | + | – |
| Hypotonia | – | + | – |