Table 1.

Comparisons of patients with the PWS phenotype and similar atypical 15q11-q13 deletions.

Clinical Category	Butler et al. (1996) (updated)	Sahoo et al. (2008)	de Smith et al., (2009)	Duker et al., (2010)	Bieth et al. (2015)
Demographics
Age (yr)	26	5	19	11	23
Ethnicity	Caucasian	Caucasian	South Asian Indian	African-American	Caucasian
Gender	Female	Male	Male	Male	Female
Current Height (cm) [%]	152.4 [10th]	[95th]	167.5 [25th]	[25th]	N/A
Current Weight (kg) [%]	106 [90th]	N/A	109[>97th]	94 [>97th]	N/A
Body Mass Index	46	N/A	39	50	31
Birth Length (cm) [%]	54.6 [90th]	N/A	N/A	53 [90th]	48 [25th]
Birth Weight (g) [%]	3334 [30th]	N/A	2800 [10th]	3020 [10th-25th]	2780 [10th-25th]
Clinical Features
Neonatal Feeding Difficulty	Yes	Yes	Yes	Yes	Yes
Hypotonia	Yes	Yes	Yes	Yes	Yes
Small Hands/Feet	Yes	Yes	Yes	Feet	N/A
Hypogonadism	N/A	Yes	Yes	Yes	Yes
Scoliosis	Mild	No	No	N/A	No
Intellectual Disability	Borderline (IQ = 79)	Mild	Mild	Mild	Mild
Seizure Activity	Yes	N/A	N/A	Yes	N/A
Behavioral Features
Skin-Picking	Yes	N/A	Yes	No	Yes
Food-Foraging	Yes	N/A	N/A	Yes	No
Hyperphagia	No at 5 years of age	Yes	Yes	Yes	Yes
	Yes at 10 years of age
Other Behavior	OCD	Argumentative	Temper Tantrums	Argumentative OCD	Argumentative
			Stubbornness		Aggressive
Molecular Genetics
Deletion Size (bp)	209,819	174,584	186,940	236,295	118,159
Genomic Coordinates (hg19 build)	25,165,212–25,375,031	25,284,501–25,459,086	25,206,12–25,393,065	25,223,754–25,456,690	25,257,217–25,375,376
Deleted Genes/Non-coding RNA	SNURF-SNRPN,	SNORD115,	SNURF-SNRPN,	SNORD107, SNORD64,	SNORD109A,
	SNORD107, SNORD64	SNORD109A,	SNORD109A,	SNORD108,	SNORD116
	SNORD109A	SNORD116	SNORD116	SNORD109A,
	PAR-SN,			SNORD116,
				SNORD115
	SNORD116
DNA Methylation	PWS Pattern (Imprinting Defect)	Normal Pattern	Normal Pattern	Normal Pattern	Normal Pattern
Parental Origin Of Deletion	Paternal	Paternal	DNA not available on mother	Paternal	Paternal