Skip to main content
. 2012 Aug;67(8):917–921. doi: 10.6061/clinics/2012(08)11

Table 1.

The distribution of relevant clinical features in individuals with Prader-Willi syndrome. The columns “mUPD” and “microdeletion” show the numbers of patients with each feature in the maternal uniparental disomy of chromosome 15 and microdeletion groups, respectively. The numerator shows the absolute value, and the denominator represents the number of individuals in whom the feature was evaluated. The column “Total” shows the data for all 35 patients with Prader-Willi syndrome. Note that the row “Age” presented the mean age and the corresponding standard deviation for each group.

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