Table 1.
Clinical Features | mUPD (n = 8) | Microdeletion (n = 16) | Total (n = 35) |
Gender: female | 6/8 | 5/16 | 17/35 |
male | 2/8 | 11/16 | 18/35 |
Age: mean (SD) | 12.2 y (5.9 y) | 12.9 y (4.6 y) | 13.7 y (6.9 y) |
Assisted delivery | 8/8 | 13/13 | 25/26 |
Hypotonia | 8/8 | 14/14 | 32/32 |
Feeding problems | 6/7 | 10/11 | 24/26 |
Developmental delay | 8/8 | 14/14 | 30/31 |
Facial dysmorphisms | 8/8 | 10/10 | 24/24 |
Hypogonadism | 3/7 | 9/13 | 12/27 |
Cryptorchidism | 2/7 | 7/13 | 15/30 |
Sleep disturbances | 4/5 | 3/4 | 12/14 |
Death | 1/8 | 3/14 | 4/35 |
Patients diagnosed before 4 y.o. | 4/8 | 8/15 | 17/31 |
Use of growth hormone therapy | 4/8 | 5/14 | 13/32 |