Table 1.
Name/case | Present case | Schleiermacher et al. [1] a | Granata et al. [2] | Schomig-Spingler et al. [3] |
---|---|---|---|---|
Gender | Male | Male+ Female | Mixed | Mixed |
Genotype | 10p+, 7p− | 10p+ | 10p+ | 7p− |
Growth retardation | + | + | 9/9 | ND |
High-arched palate | + | + | 7/9 | 7/12 |
Wide fontanelle(s) | + | + | 6/9 | ND |
Hypertelorism | + | ND | 5/9 | 2/12b |
Micrognathia | + | ND | 5/9 | ND |
Feet anomaly | + | + | 4/9 | 6/12 |
Thrombocytopenia | + | ND | 1/9 | ND |
Posterior ear rotation | + | + | ND | 1/12 |
| ||||
Detection method | aCGH | Karyotype | Karyotype | Karyotype |
aThis paper describes the first case of 10p trisomy, with the same breakpoints as in our patient's case.
bThe patients were reported to have either hyper- or hypotelorism.
ND: not described.