Table 4 |
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Clinical findings associated with paternally-derived de novo reciprocal translocations involving SNRPN (continued) |
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Sun et al. 1996 |
Kuslich et al. 1999 |
Schulze et al. 1996 |
Conroy et al. 1997 |
Wirth et al. 2001 |
Present case |
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|
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Minor criteria (1/2 point each) |
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1. Decreased fetal movement and infantile lethargy |
Decreased fetal activity (0.5 pt.) |
Decreased fetal movements (0.5pt.) |
- |
- |
Slightly reduced fetal movements (0.5pt.) |
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|
|
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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.) |
|
|
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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.) |
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|
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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.) |
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|
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|
5. Hypopigmentation |
- |
- |
Hypopigmentation (0.5 pt.) |
- |
- |
|
|
|
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|
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.) |
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|
|
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7. Narrow hands with straight ulnar border |
- |
- |
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8. Eye abnormalities: esotropia, myopia |
- |
Esotropia (0.5 pt.) |
Alternating esotropia in infancy (0.5 pt.) |
Left esotropia (0.5 pt.) |
Esotropia (0.5pt.) |
|
|
|
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9. Thick viscous saliva |
Viscous saliva (0.5pt.) |
Thick viscous saliva (0.5 pt.) |
- |
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|
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10. Speech articulation defect |
Articulation difficulty (0.5 pt.) |
Poor articulation (0.5pt.) |
- |
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|
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11. Skin picking |
Skin picking (0.5pt.) |
Skin picking (0.5pt.) |
Skin picking (0.5pt.) |
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|
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|
Score (minor only) |
1.5 points |
3 points |
3.5 points |
2.5 points |
1.5 points |
3.5 points |
|
|
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|
Total Score |
6.5 points |
9 points |
8.5 points |
8.5 points |
4.5 points |
7.5 points |
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|
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|
Blank cell = no information - = absent |
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|
Schüle et al. BMC Medical Genetics 2005 6:18 doi:10.1186/1471-2350-6-18 |
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