Table 1
Clinical findings in patients 1-5 with t(4;8) and patient 6 with t(4;7)
| Patient 1 (CG/96E0600) | Patient 2 (DT/92E1657) | Patient 3 (LF/96E0551) | Patient 4 (NR/97E877) | Patient 5 (AS/94E1416) |
Patient 6 (CL/87E1624) | |||||||
| Anthropometric data | ||||||||||||
| Birth (gestational weeks) | 39 | 36 | 38 | 40 | 40 | 41 | ||||||
| Weight (g) | 2900 (−1.0 SD) | 2120 (−1.2 SD) | 1800 (−3.4 SD) | 2240 (−3.6 SD) | 2200 (−3.7 SD) | 2950 (−1.6 SD) | ||||||
| Length (cm) | NR | 46 (−0.4 SD) | 42 (−2.9 SD) | 47 (−3.2 SD) | 45 (−4.3 SD) | 48 (−2.5 SD) | ||||||
| OFC (cm) | 31.5 (−2.4 SD) | 30.5 (−1.9 SD) | NR | 31.5 (−2.7 SD) | 32 (−2.3 SD) | 34 (−1.6 SD) | ||||||
| Age at examination (y) | 1
| 3
| 3
| 2 | 5
| 12 | ||||||
| Weight (g) | 5240 (−3.8 SD) | 9060 (−3.2 SD) | NR | NR | NR | 29 000 (−2 SD) | ||||||
| Height (cm) | 64.2 (−4.4 SD) | 89 (−2.7 SD) | 84.5 (−6.7 SD) | 72 (−5 SD) | 91 (−4.4 SD) | 133 (−2.4 SD) | ||||||
| OFC (cm) | 41.3 (−3.5 SD) | 46.5 (−2.2 SD) | 44 (−5.0 SD) | 42 (−4.6 SD) | 46 (−3.5 SD) | 54 (mean) | ||||||
| Dysmorphic features | ||||||||||||
| Hypertelorism | + | + | + | + | + | + | ||||||
| Strabismus | + | − | + | + | + | + | ||||||
| Broad, large mouth | − | + | − | − | + | + | ||||||
| Downturned corners of mouth | + | + | + | + | + | + | ||||||
| Micrognathia | + | + | + | + | + | |||||||
| Cleft lip/palate | − | − | + | + | + | − | ||||||
| Dysplastic ears | + | + | + | + | + | + | ||||||
| Preauricular tag | − | − | + | − | − | − | ||||||
| Internal findings | ||||||||||||
| Heart defect | − | − | ASD | ASD | − | − | ||||||
| Genital anomalies | − | + | NR | − | − | + | ||||||
| Neurological development | ||||||||||||
| Sitting age (mth) | 13 | 20 | 60 | − | 24 | 36 | ||||||
| Walking age (y) | 2 | 3
| 6
| − | 5 | ? | ||||||
| Simple words (y) | 2
| − | − | − | − | ? | ||||||
| Understanding of speech | ++ | ++ | (+) | − | − | ++ | ||||||
| Seizures | − | + | + | + | + | + | ||||||
| Additional findings | Oligohydramnios | |||||||||||
| Bilateral pneumothorax | ||||||||||||
| Flexion contractures of large joints | ||||||||||||
| Hypoplasia of corpus callosum | ||||||||||||
| Hirschsprung disease | ||||||||||||