An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome

Table 1

Clinical features present in the patient (10 points).

	Criteria from Holm et al., 1993	Criteria to prompt DNA testing from Gunay-Aygun et al., 2001	Present case
Major criteria (1 point)	Neonatal/infantile central hypotonia, poor suck	X	X
	Feeding problems in infancy requiring special techniques		X
	Excessive/rapid weight gain between 1-6yo
	Characteristic facial features		X
	Hypogonadism	X
	Global developmental delay	X	X
	Hyperphagia/food foraging, central obesity	X	X
	Deletion 15q11-13
Minor criteria (1/2 point)	Decreased fetal movement/infantile lethargy/weak cry in infancy		X
	Characteristic behavior challenges	X	X
	Sleep disturbance/sleep apnea		X
	Short stature		X
	Hypopigmentation		X
	Small hands/feet		X
	Narrow hands
	Eye abnormalities		X
	Thick viscous saliva		X
	Speech articulation defects		X
	Skin picking		X
Supportive findings	High pain threshold
	Decreased vomiting		X
	Temperature instability/sensitivity
	Scoliosis/kyphosis
	Early adrenarche
	Osteoporosis
	Unusual skill with jigsaw puzzles
	Normal neuromuscular studies

Modified from Holm et al. 1993 (8 points needed to meet diagnostic criteria, patient score = 10) [4, 5].