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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