Table 1.
Comparison of phenotypic features of the patients with a 20p13 subtelomeric microdeletion
| Yu An et al. | McGill et al. | Baker et al. | Moutton et al. | Jezela‐Stanek et al. | Our case | Affected/Total case (%) | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Case 1 | Case 2 | Case 3 | Case 4 | Case 1 | Case 2 | Case 1 | Case 1 | Case 1 | |||
| Size of deletion | 1.4 Mb | 1.1 Mb | 799 kb | 274 kb | 1.7 Mb | 1.2 Mb | NA | 2.08 Mb | 1.15 Mb | 2.01 Mb | |
| Gender | Male | Male | Female | Male | Female | Female | Male | Female | Female | Female | |
| Diagnostic age | 16 years 9 months | 11 years 6 months | 3 years 4 months | 16 years | 11 months | 15 years | 10 years | 19 years | 9 years | 9months | |
| Large fontanelles | − | + | − | NA | + | + | NA | − | + | + |
5/10 (50%) |
| Forehead | Normal | Frontal bossing | Frontal bossing | Normal | Normal | NA | NA | Normal | Normal | Frontal bossing |
3/10 (30%) |
| Head | Normal | Macrocephaly | Macrocephaly | Normal | Normal | Microcephaly | NA | Microcephaly | Normal | Normal |
4/10 (40%) |
| Hearing | NA | NA | Normal | Normal | NA | NA | NA | NA | NA |
Bilateral sensorineural hearing loss |
1/10 (10%) |
| Vision | NA | NA | NA | Normal | NA | Poor visual acuity | NA | Peripheral retinopathy | Normal | Normal |
2/10 (20%) |
| Facial feature | |||||||||||
| Prominent nasal root and ridge | − | − | A short nasal root with broad tip and anteverted nares | − | − | + | NA | + | − | − |
3/10 (30%) |
| Eyes | Narrow palpebral fissures | Deep‐set eyes | Downslanting palpebral fissures, slightly deep set eyes | Slightly hypertelorism | Microcorneas, marked edema of the lids, reversed epicanthal, synophrys, telecanthus | NA | NA | Normal | Normal | Hypertelorism |
6/10 (60%) |
| Ears | Hypoplastic helix | − | − | − | Thicked, posteriorly rotated | Low‐set and posteriorly rotated ears with thickened overfolded helices | NA | Low‐set, dysplastic, thick overfolded helices | − | Low‐set ears |
5/10 (50%) |
| Flat philtrum | NA | Everted | NA | NA | + | − | NA | − | + | + |
4/10 (40%) |
| philtrum | |||||||||||
| Thin upper lip | Normal | Inverted upper lip | Normal | Bowed upper lip | + | + | NA | + | + | + |
7/10 (70%) |
| High palate | + | − | − | − | − | + | NA | + | + | − |
4/10 (40%) |
| Others | |||||||||||
| Hypoplastic nails | + | − | NA | − | − | + | NA | Broad finger tips | + | − |
4/10 (40%) |
| Digits | Normal | Syndactyly | NA | long toes | NA | Short, broad thumbs | NA | Brachydactyly | discrete fifth finger clinodactyly | Polydactyly |
6/10 (60%) |
| Seizures | − | − | NA | − | Neonatal seizure | Generalized seizure | Generalized seizure | Absence‐epilepsy | − | − |
4/10 (40%) |
| EEG abnormalities | + | + | NA | − | NA | + | NA | + | NA | + |
5/10 (50%) |
| Weight deficiency | − | − | − | − | − | + | NA | − | + | Growth retardation |
3/10 (30%) |
| Neonatal complication | Jaundice | − | Gastroesophageal reflux | NA | Respiratory stress | Mild jaundice | NA | Jaundice | NA | NA |
5/10 (50%) |
| Developmental delay | |||||||||||
| Motor delay | + | + | + | + | + | + | NA | + | + | + |
9/10 (90%) |
| Language delay | + | + | + | + | NA | + | NA | + | − | na |
6/10 (60%) |
| Mental retardation | − | Mild | − | NA | NA | Mild | Moderate | Moderate | + | na |
5/10 (50%) |
NA, no available; +, present; −, absent; na, no assessment.