Table 3. Clinical features for partial monosomy cases.
| Case | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Clinical features | 31 | 32 | 33 | 34 | 35 | 36 | 37 | 38 | 39 | 40 | 42 | Phenotype present (%)* |
| Short stature | + | + | + | − | + | 4/5 (80) | ||||||
| Short neck | + | + | − | 2/3 (67) | ||||||||
| Microcephaly | − | + | + | − | + | 3/5 (60) | ||||||
| Brachycephaly | − | 0/1 (0) | ||||||||||
| Dolichocephaly | + | − | 1/2 (50) | |||||||||
| Low hairline | + | − | 1/2 (50) | |||||||||
| Epicantic eye fold | − | − | + | + | − | 2/5 (40) | ||||||
| Hypertelorism | − | + | + | + | 3/4 (75) | |||||||
| Microphtalmia | + | − | − | 1/3 (34) | ||||||||
| Pronounced median raphe of the filtrum | + | − | 1/2 (50) | |||||||||
| Highly arched palate | + | + | − | 2/3 (67) | ||||||||
| Downslant palp.fissures | − | − | + | + | 2/4 (50) | |||||||
| Synbrachydactily | + | + | − | 2/3 (67) | ||||||||
| Brushfield spots | − | 0/1 (0) | ||||||||||
| Flat nasal bridge | − | − | 0/2 (0) | |||||||||
| Broad nasal bridge | + | + | − | − | 2/4 (50) | |||||||
| Broad mouth | + | + | − | + | 3/4 (75) | |||||||
| Large ears | + | + | − | + | 3/4 (75) | |||||||
| Large nose | + | + | + | − | 3/4 (75) | |||||||
| Cardiac anomaly | − | − | − | + | 1/4 (25) | |||||||
| Clinodactily of fifth finger | − | + | − | + | 2/4 (50) | |||||||
| Palmar crease | − | + | − | 1/3 (34) | ||||||||
| Hypotonia | + | − | − | 1/3 (34) | ||||||||
| Hypertonia | + | + | − | − | 2/4 (50) | |||||||
| Seizure | + | + | − | 2/3 (67) | ||||||||
| Lax. ligaments | − | − | 0/2 (0) | |||||||||
| IQ or MR | + | + | + | + | + | + | + | 7/7 (100) | ||||
+, feature present; −, feature absent; blank, feature unknown. *The number and percentage of partial monosomy cases for a particular clinical feature where the status of the clinical feature is known.