| | | Patient 1 | Patient 2 | Spengler et al. (2010) [3] | Takenouchi et al. (2012) [4] | Mari et al. (2009) [5] | Menten et al. (2007) [2]
#D0502619 | Menten et al. (2007) [2]
#4818 | Buysse et al. (2009) [1]
#03g1858 |
| | Hg coordinates | 63,169,460–66,983,229 | 60,220,054–65,843,601 | ~66,200,000–67,550,000 | 66,080,229–70,062,135 | ~66,173,733–68,023,733 | ~61,800,000–66,800,000 | ~65,100,000–68,500,000 | ~61,500,000–67,600,000 |
| | Deletion size (Mb) | 3.8 | 5.6 | 1.35 | 4 | 1.8 | 5 | ~3.4 | ~6 |
| | Pregnancy | IUGR | Uncomplicated | IUGR | Severe IUGR | Severe IUGR | Oligohydramnios | Hyperemesis | Uncomplicated |
| | Birth measurements | Wgt.: 2550 g, Lgt.: 48 cm, HC: 35 cm | Wgt.: 2600 g (75th centile), HC: 33 cm (75th–91th centile) | Wgt.: 2700 g (−1.83 SD), Lgt.: 46 cm (−2.59 SD), HC: not noted | Wgt.: 527 g (−3.78 SD), Lgt.: 30.5 cm, HC: 22 cm | Wgt.: 1730 g (<10th centile), Lgt.: 43 cm (−4 SD), OFC: 29 cm (−3.66 SD) | Wt.: 2300 g (<P3), Lgt.: not noted, OFC: not noted | Wgt.: at 3rd centile, Lgt.: at 10th centile | Wgt.: 2060 g (<P3), Lgt. & HC not noted |
| | Growth parameters | 3 years: Wgt.: 11 kg (0.5 kg <3rd centile), Hgt.: 82.6 cm (−3.5 SD), HC: 49.5 cm (40th percentile) | 3 years 8 months: Wgt.: 17.4 Kg, HC: 54 cm, Hgt.: 102.2 cm | 1 year 9 months: Wgt.: 6.8 Kg (−5.4 SD), Hgt.: 70.8 cm (−4.5 SD), OFC: 43.7 (−3.3 SD) | 29 months: Wgt.: 10.5 kg (−0.75 SD), Hgt. 76 cm (−3.13 SD), HC: 42.5 cm (−3.53 SD) | 3 years: Wgt.: 6.5 Kg (−5 SD), Hgt.: 77 cm (−4.85 SD), OFC: 44.5 cm (−5.1 SD) | 14 years: Wgt.: 51.3 kg (mean for age), Hgt.: 142.3 cm (−3.5 SD), HC: 53.3 cm (−0.66 SD) | 18 years, Wgt.: 41 kg, Hgt.: 152 cm (both below 3rd centile) | 16 years: Hgt. 131.5 cm (−6.2 SD), HC: 49 cm (−4.4 SD) |
| | Clinical presentation | Severe SS, relative macrocephaly | Absolute macrocephaly | SS, FTT, relative macrocephaly | SS, severe FTT | Severe proportionate SS, FTT | SS | SS, FTT | Proportionate SS, FTT |
| | Developmental delay | Mild | Yes | Mild | Not noted | Yes | Yes | Mild | Yes |
| | Dysmorphic features | Alternating esotropia, severe myopia | Strabismus, prominent brow, large and slightly low set eyes | Prominent head, slight triangle face, dysplastic ears, clinodactyly of 5th finger | Cleft lip with alveolar cleft on the right, atrial septal defect | Triangle face with prominent forehead, low set ears, vaulted palate, micrognathia | Scoliosis, deep set eyes, bushy eyebrows, thin lips | Triangle face with wide spaced eyes | Synophrys, mild hypertelorism, broad & high nasal bridge, micrognathia & maxillary overbite |
| | Behavioural issues | Possible ADHD, mild ASD | ASD | Not noted | No | Not noted | Not noted | Not noted | Not noted |
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