Phenotypic features of the patients with different chromosome 21 aneuploidies. (Proband CGM-14 has not been included as his phenotypic clinical traits do not coincide with those considered in Jackson’s list: see text)
| SGH | EJL | ACR | EVC | NMR | CGM-10 | SPG | |
|---|---|---|---|---|---|---|---|
| Short stature | + | + | + | + | + | + | NA |
| Mental retardation | + | + | +/− | + | + | + | − |
| Brachycephaly | NA | NA | + | NA | + | − | + |
| Microcephaly | − | − | − | − | + | + | NA |
| Upward slanting palpebral fissures | + | + | + | + | + | − | − |
| Downward slanting palpebral fissures | − | − | − | − | − | − | + |
| Epicanthic folds | + | + | + | + | − | + | + |
| Brushfield spots | + | − | − | − | + | NA | NA |
| Flat nasal bridge | + | − | + | + | − | + | + |
| Flat face | + | NA | + | + | + | NA | − |
| Open mouth | + | − | + | + | + | NA | − |
| High arched palate | − | + | − | + | + | NA | + |
| Furrowed tongue | − | − | + | + | − | NA | − |
| Malpositioned ears | + | NA | + | + | + | − | − |
| Small, dysmorphic ears | + | NA | + | + | + | NA | − |
| Short neck | + | + | + | + | + | NA | − |
| Short and broad hands | + | + | + | + | + | NA | − |
| Clinodactyly of 5th finger | + | + | + | + | + | NA | − |
| Tranverse palmar crease | − | + | + | + | − | − | − |
| Abnormal dermatoglyphics | − | + | + | NA | NA | + | − |
| Hypotonia | + | + | + | + | + | − | − |
| Congenital heart defect | + | − | + | + | NA | − | Light heart defect |
| Other visceral anomalies | − | + | + | − | NA | NA | Hypospadias |
+: presence, −: absence, NA: not available.