Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome

Table 2 Phenotypic characteristics of 6 patients with atypical deletions

Parameters	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6
Deletion region	distal BP2–BP3	distal BP1–proximal BP3	distal BP1–BP3	BP1–BP4	BP1–BP4	BP1–BP5
Maternal age	26 years	31 years	28 years	24 years	32 years	25 years
Diagnosis age	< 1 year	3 years	< 1 year	< 1 year	1.5 years	< 1 year
Sex	male	female	male	male	female	male
Neonatal hypotonia	+	+	+	+	+	+
Feeding problems	+	+	+	+	+	+
Cryptorchidism	–	NA	+	+	NA	+
Hypopigmentation	–	–	+	+	+	+
Developmental delay	+	+	+	+	+	+
Dysmorphic face ^a	–	–	–	–	+	+
Short stature ^b	+	+	+	+	+	+
Small hands and feet	–	–	–	–	+	+
Sticky saliva	+	+	–	+	+	+
Temperature instability ^c	–	–	–	+	–	+
Sleeping disorder	–	–	–	–	+	+
Hyperphagia	–	+	+	NA	+	+
Obesity ^d	–	+	–	NA	+	+
Speech delay ^e	+	+	+	NA	+	+
Learning disabilities	+	+	+	NA	+	+
Temper tantrums	+	+	+	NA	+	+
Compulsive behavior	–	–	–	NA	+	+
Anxiety	–	–	–	NA	+	+
Autistic trait	–	–	–	NA	+	+
Skin picking	–	+	+	NA	+	+
High pain threshold	–	–	–	NA	–	–
Abnormal karyotype	–	–	–	–	–	+

+ : positive. –: negative, NA Not applicable for evaluation. ^aAlmond-shaped eyes, strabismus, narrow bifrontal diameter. ^bHeight < 2 standard deviation score, ^cFebrile seizures. ^dBMI > 95 centile. ^eLess than 30 words at 2 years

ISSN: 1824-7288