Table 4.
Clinical findings associated with paternally-derived de novo reciprocal translocations involving SNRPN (continued)
| Sun et al. 1996 | Kuslich et al. 1999 | Schulze et al. 1996 | Conroy et al. 1997 | Wirth et al. 2001 | Present case | |
| Minor criteria (1/2 point each) | ||||||
| 1. Decreased fetal movement and infantile lethargy | Decreased fetal activity (0.5 pt.) | Decreased fetal movements (0.5pt.) | - | - | Slightly reduced fetal movements (0.5pt.) | |
| 2. Typical behaviour problems | Behavior problems (0.5pt.) | Temper tantrums, violent outbursts, obsessive-compulsive (0.5 pt.) | Aggressive outbursts, rigid personality, perseveration (0.5pt.) | Behavior problems with temper tantrums and severe aggressiveness (0.5 pt.) | Temper tantrums, violent outbursts after food restrictions (0.5pt.) | Temper tantrums, abnormal social behavior (0.5pt.) |
| 3. Sleep disturbance, sleep apnea | Sleep disturbance, sleep apnea (0.5pt.) | Sleep disturbance (0.5pt.) | Sleep disturbance, amphetamine treatment from age 9 ys. (0.5pt.) | |||
| 4. Short stature for the family by age 15 years | Short stature at the age of 15 (0.5pt.) | 50–75th percentile (0.5pt.) | 151 cm (3rd%tile) (0.5pt.) | Height 155.7 cm at 16 years < 3rd %tile (0.5 pt.) | ||
| 5. Hypopigmentation | - | - | Hypopigmentation (0.5 pt.) | - | - | |
| 6. Small hands and /or feet for height age | Hand length 25th percentile, finger length 10th%ile (0.5pt.) | - | Normal hands, but small feet (< 10th%tile) (0.5 pt.) | Short 3rd finger bilaterally | Hands 20th %ile, feet 5th %ile (0.5pt.) | |
| 7. Narrow hands with straight ulnar border | - | - | ||||
| 8. Eye abnormalities: esotropia, myopia | - | Esotropia (0.5 pt.) | Alternating esotropia in infancy (0.5 pt.) | Left esotropia (0.5 pt.) | Esotropia (0.5pt.) | |
| 9. Thick viscous saliva | Viscous saliva (0.5pt.) | Thick viscous saliva (0.5 pt.) | - | |||
| 10. Speech articulation defect | Articulation difficulty (0.5 pt.) | Poor articulation (0.5pt.) | - | |||
| 11. Skin picking | Skin picking (0.5pt.) | Skin picking (0.5pt.) | Skin picking (0.5pt.) | |||
| Score (minor only) | 1.5 points | 3 points | 3.5 points | 2.5 points | 1.5 points | 3.5 points |
| Total Score | 6.5 points | 9 points | 8.5 points | 8.5 points | 4.5 points | 7.5 points |
Blank cell = no information
- = absent