Table 1.

Diagnostic yields in patients categorized by ID severity and co-occurring conditions

I. Based on ID severity
	total		P#		Yield		P-value
Mild	140		27		19%		0.08
Moderate	105		23		22%
Severe	85		28		33%
Profound	15		2		13%
Not categorized	365		121		33%		/
II. Based on co-occurring conditions present in > 50 patients, with statistical analysis performed
	With select condition			Without select condition			Odds ratio	P-value
	total	P#	Yield	total	P#	Yield
SSa	201	65	32%	136	30	22%	1.69	0.048
CHDb	98	54	55%	110	20	18%	5.52	2.66E-08
Gonadal dysplasia	50	18	36%	103	20	19%	2.33	0.03
Skeletal malformation	62	16	26%	24	3	13%	2.44	0.251
Facial dysmorphism	201	79	39%	194	39	20%	2.57	4.27E-05
Microcephaly	128	43	34%	140	25	18%	2.33	0.0033
Brain malformation	147	36	24%	148	29	20%	1.33	0.328
Epilepsy	62	15	24%	115	23	20%	1.28	0.567
Hypotonia	54	19	35%	113	18	16%	2.87	0.00613
Pre/peri-natal problems	160	50	31%	234	50	21%	1.67	0.034
SS + dysmorphism	79	30	38%	71	9	13%	4.22	6.70E-04
SS + microcephaly	66	25	38%	74	14	19%	2.61	0.015
SS + brain malformation	56	17	30%	45	9	20%	1.74	0.261
CHD + dysmorphism	50	31	62%	61	8	13%	10.81	9.10E-08
III. Based on co-occurring conditions present in < 50 patients
		total	P#	Yield		total	P#	Yield
Family history		38	7	18%	Macrocephaly	14	2	14%
Autism		20	3	15%	Hypertonia	26	6	23%
Muscle weakness		10	4	40%	Cleft lip/palate	8	7	88%
Obesity		16	10	63%	Low weight	47	23	49%
Ocular/auditory anomalies		50	8	16%	Kidney/urinary tract anomalies	12	5	42%
Gastrointestinal anomalies		10	3	30%	Respiratory tract anomalies	6	4	67%
Abnormal blood biochemistry		33	9	27%	Karyotypical abnormalities	26	24	92%

^aSS-short stature; ^bCHD-congenital heart defects

P# number of patients with pCNVs identified, Odds ratio yielding pCNVs in patients with select condition versus without select condition, based on fisher’s exact; p-value < 0.01, two-tailed were displayed in bold