Table 1.
Comparison of the clinical findings in patients with parital trisomy 4q
| Taylor et al. [13] | Stoll et al. [14] | Mikelsaar et al. [15] | Lundin et al. [16] | Rinaldi et al. [17] | Lin et al. [18] | Egritas et al. [19] | Velinov et al. [20] | Cakmak−Genc et al. [21] | White et al. [22] | Our study | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case 1 | Case 2 | |||||||||||
| Duplication region | 4q26-q35 | 4q26-qter | 4q25-qter | 4q27-q35 | 4q24-q35 | 4q28.1-q35 | 4q25-qter | 4q25-qter | 4q28-qter | 4q24-qter | 4q28.3-qter | 4q28.3-qter |
| Deletion region | − | − | − | − | − | − | − | 21q21.1-q22.3 | 9p24-pter | Xq22-qter | Xp21.3-p22.33 | 6p25.2-p25.3 |
| Age/Sex | 6.5/M | 11/F | 7/F | 13/F | 1/M | 2.5/M | 1.25/F | NB/F | NB/F | 32/F | 28/F | Fetus |
| Growth retardation | + | + | + | + | + | + | − | + | NM | − | − | IUGR |
| Intellectual disability | + | + | + | + | + | − | + | NM | + | − | − | NA |
| Microcephaly | + | + | + | + | + | − | + | + | − | − | − | NA |
| Low−set/malformed ears | + | + | + | − | + | + | + | + | + | − | − | NA |
| Retrognathia/micrognathia | NM | NM | − | − | + | − | + | + | − | − | NA | |
| High/broad nasal bridge | + | + | + | + | + | + | NM | + | + | − | − | NA |
| Thumb anomalies | − | NM | − | + | + | − | + | NM | − | − | − | NA |
| Epicanthic folds | NM | NM | NM | + | NM | + | − | + | NM | − | − | NA |
| Congenital heart defect | + | NM | − | − | + | NM | − | + | + | − | − | + |
| Renal hypoplasia | NM | NM | − | − | − | + | − | NM | − | − | − | NA |
| Epilepsy | + | NM | − | NM | − | − | NM | NM | + | − | − | NA |
| Other | Factor X defect | Choanal-atresia | Cholestasis | Choanal-atresia | Secondary amenorrhea | Short stature | ||||||
−:absent; +: present, NA not applicable, NB new born, NM not mention, F female, M male, IUGR intrauterine growth restriction