From: Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome
 | Parameters | Maternal UPD | Paternal deletion | ||||
---|---|---|---|---|---|---|---|
Heterodisomy | Isodisomy | Total | Type I | Type II | Total | ||
General information | Case evaluated | n = 11 | n = 8 | n = 19 | n = 29 | n = 56 | n = 85 |
Maternal age | 32.0 ± 3.5 | 30.5 ± 3.1 | 31.4 ± 3.4 | 28.6 ± 4.5 | 27.2 ± 3.5 | 27.8 ± 3.8* | |
Diagnosis age | |||||||
 ≤ 1 year (percentage) | 7 (63.64%) | 4 (50%) | 11 (57.89%) | 19 (65.52%) | 32 (57.14%) | 51 (60.00%) | |
 > 1 year (average) | 4.3 ± 2.5 | 5.3 ± 3.0 | 4.8 ± 2.6 | 3.7 ± 3.3 | 6.2 ± 3.2# | 5.6 ± 3.4 | |
Sex | |||||||
female | 5 (45.45%) | 3 (37.5%) | 8 (42.11%) | 12 (42.86%) | 24 (42.86%) | 36 (42.86%) | |
male | 6 (54.55%) | 5 (62.5%) | 11 (57.89%) | 17 (58.62%) | 32 (57.14%) | 49 (57.65%) | |
Neonatal (≤ 2 m) | Cases evaluated | n = 11 | n = 8 | n = 19 | n = 29 | n = 56 | n = 85 |
Hypotonia | 11 (100%) | 8 (100%) | 19 (100%) | 29 (100%) | 56 (100%) | 85 (100%) | |
Feeding problems | 9 (81.82%) | 8 (100%) | 17 (89.47%) | 29 (100%) | 52 (92.86%) | 81(95.29%) | |
Cryptorchidism (/male) | 5/6 (83.33%) | 5/5 (100%) | 10/11 (90.91%) | 15/17 (88.24%) | 29/32 (90.63%) | 44/49 (89.80%) | |
Hypopigmentation | 5 (45.45%) | 3 (37.5%) | 8 (42.11%) | 20 (68.97%) | 38 (67.86%) | 58 (68.24%)* | |
Infancy (2 m ~  ≤ 2 y) | Cases evaluated | n = 11 | n = 7 | n = 18 | n = 29 | n = 55 | n = 84 |
Motor delay | 11 (100%) | 7 (100%) | 18 (100%) | 29 (100%) | 55 (100%) | 84 (100%) | |
Dysmorphic face a | 4 (36.36%) | 2 (28.57%) | 6 (33.33%) | 12 (41.38%) | 20 (36.36%) | 32 (38.10%) | |
Short stature b | 8 (72.73%) | 6 (85.71%) | 14 (77.78%) | 26 (89.66%) | 47 (85.45%) | 73 (86.90%) | |
Small hands and feet | 4 (36.36%) | 4 (57.14%) | 8 (44.44%) | 17 (58.62%) | 27 (49.09%) | 44 (52.38%) | |
Sticky saliva | 9 (81.82%) | 5 (71.43%) | 14 (77.78%) | 24 (82.76%) | 43(78.18%) | 67 (79.76%) | |
Sleeping disorder | 4 (36.36%) | 2 (28.57%) | 6 (33.33%) | 10 (34.48%) | 20 (36.36%) | 30 (35.71%) | |
Temperature instability c | 3 (27.27%) | 1 (14.29%) | 4 (22.22%) | 9 (31.03%) | 14 (25.45%) | 23 (27.38%) | |
Childhood (2 y ~  ≤ 10 y) | Cases evaluated | n = 8 | n = 6 | n = 14 | n = 22 | n = 47 | n = 69 |
Hyperphagia | 6 (75%) | 4 (66.67%) | 10 (71.43%) | 17 (77.27%) | 34 (72.34%) | 51 (73.91%) | |
Obesity d | 4 (50%) | 4 (66.67%) | 8 (57.14%) | 15 (68.18%) | 28 (59.57%) | 43 (62.32%) | |
Speech delay e | 6 (75%) | 5 (83.33%) | 11 (78.57%) | 21 (95.45%) | 30 (63.83%)# | 51 (73.91%) | |
Learning disabilities | 8 (100%) | 6 (100%) | 14 (100%) | 22 (100%) | 45 (95.74%) | 67 (97.10%) | |
Temper tantrums | 5 (62.5%) | 4 (66.67%) | 9 (64.29%) | 16 (72.73%) | 31 (65.96%) | 47 (68.12%) | |
Compulsive behavior | 4 (50%) | 2 (33.33%) | 6 (42.86%) | 12 (54.55%) | 23 (48.94%) | 35 (50.72%) | |
Anxiety | 4 (50%) | 5 (83.33%) | 9 (64.29%) | 6 (27.27%) | 12 (25.53%) | 18 (26.09%)* | |
Autistic traits | 4 (50%) | 4 (66.67%) | 8 (57.14%) | 7 (31.82%) | 11 (23.40%) | 18 (26.09%)* | |
Skin picking | 3 (37.5%) | 3 (50%) | 6 (42.86%) | 16 (72.73%) | 33 (70.21%) | 49 (71.01%)* | |
High pain threshold | 3 (37.5%) | 2 (33.33%) | 5 (35.71%) | 8 (36.36%) | 15 (31.91%) | 23 (33.33%) | |
Teenage (> 10 y) | Cases evaluated | n = 1 | n = 1 | n = 2 | n = 3 | n = 10 | n = 13 |
Lack of satiety | 1 (100%) | 1 (100%) | 2 (100%) | 3 (100%) | 8 (80%) | 11 (84.62%) | |
Cases evaluated > 13y | n = 1 | n = 0 | n = 1 | n = 2 | n = 8 | n = 10 | |
Early adrenarche | 1 (100%) | NA | 1 (100%) | 1 (50%) | 5 (62.5%) | 6 (60%) | |
Incomplete/delayed puberty | 0 (0%) | NA | 0 (0%) | 2 (100%) | 7 (87.5%) | 9 (90%) | |
Hypogonadism f | 1 (100%) | NA | 1 (100%) | 2 (100%) | 7 (87.5%) | 9 (90%) |