Table 1 Main clinical features of Down syndrome observed in Case 1 and Case 2
Jackson's checklist | Case 1 | Case 2 | Frequency in DS subjects (%) [30] |
|---|---|---|---|
Flat nasal bridge | + | – | 86.7 |
Oblique eye fissure | + | – | 85.1 |
Epicanthic eye fold | + | – | 78.5 |
Excess of nuchal skin | – | – | 60.3 |
Single transverse palmar crease (right, left) | + | – | 60.3 |
Fifth finger mid-phalanx hypoplasia | + | – | 51.2 |
Muscular hypotonia | + | N/A | 40.4 |
Congenital heart defect | + (AVSD) | – | 24.7 |