Table 1 Clinical features of the patients with distal 2q duplication.
From: Distal 2q duplication in a patient with intellectual disability
| Â | This case | Fritz et al. | Elbracht et al. | Hermsen et al. | Dahoun-Hadorn et al. | Â | Â |
|---|---|---|---|---|---|---|---|
Location of duplication | 2q36.3-2qter | 2q35-2q37.1 | 2q35-2q37.3 | 2q35-2q37.3 | 2q35-2qter | Frequency | (%) |
Race | Japanese | Croatian | Russian | NA | NA | – | – |
Age at report (years) | 6 | 7 | 16 | 9 | 7 | – | – |
Sex | Male | Male | Female | Female | Male | – | – |
Gestation(weeks) | Delivery at term | Delivery at term | Delivery at term | Delivery at term | Delivery at term | – | – |
Body size at birth | |||||||
 Weight (g) | 2,708 (21.2 centile) | 3,200 (50th centile) | 3,210 (25-50th centile) | NA | 4,000 (90th centile) | – | – |
 Body heigh (cm) | NA | 51 (75th centile) | 56 (97th centile) | NA | NA | – | – |
 Occipito-frontal circumference (cm) | NA | NA | 34 (25th centile) | NA | NA | – | – |
Body size at report | |||||||
 Weight (kg) | 9.7 (25th centile, 19 months) | 19.7 (10th centile) | NA | 24.6 (10th centile) | 26 (75-90th centile) | – | – |
 Body heigh (cm) | 79.5 (25th centile, 19 months) | 120 (25th centile) | 177.6 (97th centile) | 131.6 (35th centile) | 124 (50th centile) | – | – |
 Occipito-frontal circumference (cm) | 44.2 (10th centile, 14 months) | 49.9 (10-25 centile) | 56.4 (97th centile) | 50 (8th centile) | 56 (> 97th centile) | – | – |
 Growth retardation | – | + | – | + | – | 2/5 | 40 |
 Intellectual disability | + (Severe) | + | + (Moderate) | + (Moderate) | + (Limited to a dozen words at 7 years) | 5/5 | 100 |
 Microcephaly | + | – | – | NA | – | 1/4 | 25 |
 Cerebral atrophy | - (Slightly small frontal lobe) | NA | NA | NA | – | 0/2 | 0 |
 Brachycephaly | + | + | + | NA | – | 3/4 | 75 |
 Abnormality of the hairline | – | + | + | NA | – | 2/4 | 50 |
 Prominent forehead | + | + | + | + | + | 5/5 | 100 |
 Broad nasal bridge | – | + | + | + | + | 3/5 | 60 |
 Overhanging nasal tip | – | + | + | + | + | 4/5 | 80 |
 Hypertelorism | + | – | – | + | + | 3/5 | 60 |
 Ocular anomalies | + (Prominent eyes) | – | + | + (Nystagmus and slow signal conduction of the optical nerve) | – | 3/5 | 60 |
 Long philitrum | – | – | – | + | – | 1/5 | 20 |
 Thin upper lip | + | + | + | + | + | 5/5 | 100 |
 High arched/cleft palate | – | + | – | – | – | 1/5 | 20 |
 Micro retrognathia | – | NA | + | NA | + | 1/3 | 33.3 |
 Dental abnormalities | + (Progenia) | + | NA | + | NA | 3/3 | 100 |
 Hearing disorders | – | – | – | – | – | 0/0 | 0 |
 Large ears | – | + | + | + | + | 4/5 | 80 |
 Low set ears | – | + | – | + | + | 3/5 | 60 |
 Short neck | – | + | NA | NA | NA | 1/2 | 50 |
 Clinodactyly of fifth ginger | – | + | + | + | + | 4/5 | 80 |
 Skeletalanomalies | – | Short with incomplete syndactyly III/IV of both hands and II/III of both feet | – | – | Big and ling toes with enlarged distal phalanges Abnormally-placed sphenoid wings Small suprasellar calcification and a large temporal fossa | 2/5 | 40 |
 Cardiac anomalies | – | NA | – | – | – | 0/4 | 0 |
 Genital anomalies | – | + | + | – | + | 3/5 | 60 |
 Urinary organ anomalies | – | NA | – | – | + | 1/4 | 25 |
 Muscular hypotonia | – | + | NA | NA | – | 1/3 | 33.3 |
 Others | – | Joints with hyperextensible | – | – | Clacification of the optic chiasma cistern | 2/5 | 40 |
