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Table 4 Clinical findings associated with paternally-derived de novo reciprocal translocations involving SNRPN (continued)

From: Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome


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

  1. Blank cell = no information
  2. - = absent