Table 4.

Differences in clinical features in the proband by parental origin and gender of the 15q11.2 BP1-BP2 microdeletion.

		Parent-of-Origin Differences						Gender Differences
	Clinical Feature	Full Cohort (N = 71)		No Siblings (N = 55)		No Siblings and/or VOUS (N = 44)		Full Cohort (N = 71)		No Siblings (N = 55)		No Siblings and/or VOUS (N = 44)
		% Mat	% Pat	% Mat	% Pat	% Mat	% Pat	% F	% M	% F	% M	% F	% M
Grouped Clinical Features	Any Behavior	62	41	59	42	50	45	31	64 **	36	61	32	60
	Any Delays	65	68	62	77	54	75	48	79 **	55	79	47	76 *
	Any Non-physical	97	92	97	92	96	95	90	98	91	97	89	100
	Any Physical	56	65	59	73	54	65	55	64	59	70	53	64
Specific Clinical Features	ASD	29	8 *	24	8	21	5	17	19	18	15	11	16
	CHD	0	22 ***	0	19 **	0	10	17	7	14	6	11	0
	DD	41	32	41	38	38	40	24	45	32	45	26	48
	Difficult Behaviors	47	27	45	27	38	25	24	45	27	42	21	40
	Epilepsy	29	19	34	12 *	42	10 **	38	14 *	32	18	32	24
	Facial Dysmorphisms	47	38	48	46	42	45	38	45	45	48	42	44
	ID	44	27	45	31	46	35	28	40	32	42	32	48
	LD	38	22	38	19	38	20	17	38	23	33	16	40
	Macrocephaly	15	0 *	17	0*	13	0	7	7	9	9	5	8
	Microcephaly	15	24	10	27	13	25	17	21	18	18	16	20
	Motor Delay	53	46	48	54	50	55	28	64 ***	32	64 *	32	68 *
	Muscular Diagnosis	24	38	24	50 *	17	55 **	28	33	36	36	32	36
	Psychiatric Diagnosis	32	27	31	23	29	30	17	38	23	30	26	32
	Short Stature	9	19	10	19	13	20	10	17	14	15	16	16
	Speech Delay	56	43	52	54	46	50	38	57	41	61	32	60

Mat: maternal; Pat: paternal; F: female; M; male; Any Behavior: Any behavioral symptoms; Any Delays: speech, motor, or general developmental delays; Any Non-physical: Any non-physical feature noted; Any Physical: Any physical feature noted; ASD: autism spectrum disorder; CHD: congenital heart disease; DD: Developmental delays; ID: Intellectual disability; LD: Learning disorder/difficulties; Muscular Diagnosis: muscle-related phenotypes; Psychiatric Diagnosis: Psychiatric condition diagnosis. VOUS: variant of unknown significance by genetic testing (e.g., microarray analysis). chi-squared test; p-values (significance p < 0.05); * p ≤ 0.05, ** p ≤ 0.01, *** p ≤ 0.005.