Wieczorek et al9 | This case |
dup22 (q13→ter) | |
Sex | F | M | |
Small for gestational age | + | + | 7/7 |
Muscular hypotonia | + | − | 3/4 |
Mental retardation | + | Mild | 3/3 |
Feeding difficulties | + | NR | 3/3 |
Microcephaly | + | + | 4/7 |
Congenital hydrocephalus | − | − | 4/5 |
Arrhinencephaly | − | − | 1/4 |
Hypertelorism | + | + | 4/4 |
Narrow palpebral fissures | + | − | 4/4 |
Small nose with anteverted nares | + | − | 4/4 |
Thin upper lip | NR | − | 3/3 |
Cleft palate | + | + | 5/8 |
Retro/micrognathia | + | − | 5/6 |
Dysplastic ears | + | + | 4/4 |
Low set ears | + | + | 5/6 |
Short neck | + | + | 4/4 |
Small thorax with hypoplastic nipples | + | − | 4/4 |
Congenital heart defect | + | − | 5/7 |
Genital anomalies | / | − | 3/3 |
Foot deformities | + | + | 4/4 |
Short feet | + | − | 2/2 |
Small hands | + | − | 1/2 |
Imperforate anus | − | + | − |
Survival | Still alive | Still alive (3 years) | 1 day–11 months |