Clinical features of cases with tetrasomy 21 and tetrasomy 21 mosaicism
| Case report | Jabs et al11 |
Daumer-Haas et al10 | Nagarsheth and Mootabar18 |
Gutiérrez-Angulo et al12 |
Cerretini et al13 | Our patient |
| Mother's age | 24 y | 32 y | 38 y | 33 y | 46 y | 34 y |
| Father's age | 36 y | 32 y | 52 y | 33 y | ||
| Pregnancy | Spotting/cough | Normal | Bleeding | Bleeding | ↓ weight gain | |
| Gestation | 32 wk | Term | 38+ wk | 38 wk | 33 wk | |
| Birth weight (g) | 2020 | 2940 | 2040 | 3600 | 1420 (3rd) | |
| Age | 4 d | 33 mth | 1 d | 29 mth | 11 y | 18 mth |
| Length | 89.5 cm (25th) | 90 cm (50th) | NAD | 68 cm (<<3rd) | ||
| Weight | 12.0 kg (10th) | 10.9 kg (10th) | NAD | 8.88 kg (<3rd) | ||
| Head circumference | 45.5 cm (<3rd) | 45.5 m (<3rd) | NAD | 40.3 cm (<<3rd) | ||
| Motor development | Normal | Unable to walk | Unable to sit | |||
| Speech | Single words | IQ=37 | Babble | |||
| Jackson score | ||||||
| Brachycephaly | + | + | + | + | + | |
| Oblique eye fissures | + | + | + | |||
| Epicanthic folds | + | + | + | |||
| Blepharitis | ||||||
| Brushfield spots | + | + | ||||
| Nystagmus | ||||||
| Flat nasal bridge | + | + | + | + | ||
| Open mouth | + | + | + | |||
| Abnormal teeth | + | |||||
| Protruding tongue | + | + | + | |||
| Furrowed tongue | ||||||
| High arched palate | ||||||
| Narrow palate | ||||||
| Folded ear | ||||||
| Short neck | + | + | + | |||
| Loose skin of neck | + | + | + | |||
| Short and broad hands | + | + | ||||
| Short fifth finger | + | + | ||||
| Incurved fifth finger | + | + | ||||
| Transverse crease | + | |||||
| Gap between 1st/2nd toe | + | |||||
| Congenital heart defect | PDA | |||||
| Murmur | + | |||||
| Joint hyperflexibility | + | + | ||||
| Muscular hypotonia | + | + | + | + | ||
| Jackson score | 9 | 10 | 7 | 7 | 1 | 12 |