Table 1. Clinical features of the proband and previously reported CHD patients with partially overlapping chromosome 8p deletions.
| Reference | P1 | P 2 | P 3 | P 4 | P 5 | P6 | P7 | Present |
|---|---|---|---|---|---|---|---|---|
| 42 | 43 | 9 | 6 | 6 | 44 | 45 | — | |
| Gender | M | M | F | M | M | M | M | F |
| Deletion 8p | p21.lp23.1 | p11.23p21.1 | p11.23p21.3 | p21p23 | p21p23 | p12p21.3 | p22p12 | p11.23p22 |
| DD/MR | + | + | + | + | + | + | + | + |
| Microcephaly | + | − | + | + | + | + | − | + |
| Neuropathy | NA | + | NA | NA | NA | − | NA | + |
| Cerebral MRI abnormality | NA | − | NA | NA | NA | + | NA | + |
| Hypertelorism | − | + | + | − | + | NA | NA | + |
| Epicanthal folds | + | + | + | + | + | + | NA | + |
| Short nose | − | NA | + | NA | NA | NA | NA | + |
| Malformed ears | + | + | + | + | + | + | + | − |
| Micrognathia | + | + | + | NA | NA | NA | NA | − |
| Small mouth | + | + | + | + | − | NA | NA | − |
| Thin lips | NA | + | + | NA | NA | + | NA | + |
| Upslant palpebral fissures | − | − | − | NA | NA | + | NA | + |
| High arched palate | + | − | + | − | − | NA | NA | + |
| Heart Defects | CAVC, PS | ASD, PDA, MI | PS | AVC, PS, D, PLSVC, HRV | AVC, SAS, PLSVC | VSD | VSD, PDA, PA | ASD |
| Genitourinary anomalies | + | + | − | + | + | + | NA | − |
| Ocular abnormality | NA | + | NA | NA | NA | + | NA | + |
| Auditory problems | NA | NA | NA | NA | NA | + | NA | − |
| cleft palate | NA | + | − | NA | NA | NA | NA | − |
| Simian creases | NA | NA | − | NA | NA | NA | NA | + |
| Spherocytosis | NA | + | − | NA | NA | − | NA | − |
| malformedhands, feet | + | + | + | NA | NA | NA | NA | + |
| others | 1 | 2 | 3 | − | − | NA | 4 | − |
(since 1995) DD/MR: developmental delay/mental retardation; ASD: atrial septa1 defect; PDA: patent ductus arteriosus; MI: mitral insufficiency; PS: pulmonary stenosis.; VSD: ventricle septum defect; CAVC: complete atrioventricular canal; AVC: atrioventricular canal; SAS: subaortic stenosis; PLSVC: persistent left superior vena cava; HRV: hypoplastic right ventricle; D: dextrocardia; NA: not assessable. Others: 1. cryptorchidism and hypospadia; 2. bilateral undescended testis, 11 pairs of ribs; 3. bilateral inguinal hernias, anal atresia; 4. hypospadias, hirschrung disease.