Table 2 Contrast of the clinical features of patients with 4p duplication and 8p deletion with our patient
Patients | Škrlec et al | Sagar et al | Reis et al | Our patient | |
|---|---|---|---|---|---|
No.1 | No.2 | ||||
Age/Sex | 5 m/F | 25y/F | 11y/M | 8y/F | 4y/F |
Karyotype | der(8)t(4;8) (p16.1;p23.1) | der(8)t(4;8) (p16.1 → pter; p23.1 → pter) | der(8)t(4;8)(p16.2;p23.3) | der(8)t(4;8) (p16.2;p23.3) | der(8)t(4;8)(p15.2;p23.1) |
DD | N.D | N.D | + | + | + |
ID | N.D | N.D | + | + | + |
ADHD | N.D | + | − | − | − |
Facial abnomalies | + | + | − | − | − |
Language delay | N.D | + | + | + | + |
Autism | N.D | + | + | + | − |
Cardiovascular anomalies | atrial septal defect | + | − | − | − |
Unstable emotion | N.D | + | + | + | + |
Behavioural problems (type) | N.D | Repetitive behavior | Aggressive behavior | − | − |
Hyperactivity | N.D | + | − | + | + |
Overgrowth | N.D | Macrocephalic | − | − | − |
Learning disability | N.D | + | + | + | + |
Abnormal walking posture | N.D | + | − | − | + |
Skeletal anomalies | Clinodactyly, widely spaced nipples, third toe low inserted | a mild thoracic scoliosis concave | − | − | − |
Other | − | Hypertrichosis of the eyelashes; | − | − | − |