Clinical features of the six cases with deletions of chromosome 17(q21-24)
| Park et al1 | Dallapiccola et al2 | Khalifa et al3 | Levin et al4 | Mickelson et al5 | Present case | |
| Birth details | ||||||
| Gestation | 41.5 wk | Term | 41.5 wk | 35 wk, 3 d | 39 wk | 32 wk |
| Delivery | Caesarean | SVD | SVD | Caesarean | SVD | Caesarean |
| Birth weight (g) | 2370 | 2780 | 3425 | 1160 | 2590 | 1430 |
| Birth OFC (cm) | 30.5 | 33 | 32 | 27 | − | 27 |
| Birth length (cm) | 47 | 47 | 52 | 36 | 49 | − |
| Sex | F | M | M | F | F | M |
| Craniofacial | ||||||
| Microbrachycephaly | + | + | + | − | + | − |
| Round face | + | ? | + | − | + | + |
| Hypertelorism | + | + | + | + | − | + |
| Upward slanting palpebral fissures | + | + | + | − | + | + |
| Posteriorly rotated and low set ears | + | − | + | + | − | − |
| Long philtrum | + | + | − | − | − | − |
| Downturned mouth | + | − | − | − | + | + |
| Abnormal palate | − | + | − | + | + | − |
| Abnormal uvula | + | − | − | + | − | − |
| Micrognathia | + | +/− | + | − | Mild | − |
| CNS | ||||||
| Radiological cerebral abnormalities | + | + | − | − | − | − |
| Developmental delay | Mild to mod | ? | Mod to severe | ? | Mod to severe | ? |
| Skeletal | ||||||
| Proximal placement of the thumbs | + | + | + | + | + | + |
| Symphalangism | ? | + | + | − | + | − |
| Other | ||||||
| TOF | + | + | − | − | − | + |
| Oesophageal atresia | − | + | − | − | − | + |
| Congenital heart defect | − | + | − | + | − | + |
| Death | − | 4 mth | − | 17 d | − | 3.5 mth |
| Cytogenetics | ||||||
| Karyotype | 46,XX,del(17) (q21.3q23) | 46,XY,del(17) (q21.3q24.2) | 46,XY,del(17) (q21.3q23) | 46,XX,del(17) (q23.2q24.3) | 46,XX,del(17) (q23.1q23.3) | 46,XY,del(17) (q22q23.3) |
| Parental karyotype | Normal | Normal | Normal | Normal | Normal | Normal |
SVD - spontaneous vaginal delivery
OFC - occipitofrontal circumference