Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table 4 Correlations between phenotypical core features and aCGH results (pathogenic CNVs vs likely pathogenic CNVs vs likely benign CNVs)

	pathogenic (N = 70)		likely pathogenic (N = 50)		likely benign (N = 105)		p value
	Number	Percent	Number	Percent	Number	Percent	p value
NDD	2	2.86	12	24	38	36.19	< 0.00001
Dysmorphism(s)	0	0.00	1	2	1	0.95	NA
MCA	5	7.14	1	2	8	7.62	0.371509
Epilepsy	0	0.00	2	4	1	0.95	NA
NDD + Dysmorphism(s)	25	35.71	13	26	15	14.29	*0.004246*
NDD + MCA	10	14.29	8	16	12	11.43	0.70822
NDD + epilepsy	1	1.43	4	8	9	8.57	0.13395
NDD + dysmorphism(s) + MCA	12	17.14	4	8	10	9.52	0.20385
NDD + dysmorphism(s) + epilepsy	2	2.86	1	2	1	0.95	0.640556
NDD + MCA + epilepsy	4	5.71	2	4	3	2.86	0.823368
NDD + dysmorphism(s) + MCA + epilespy	2	2.86	0	0	0	0.00	NA
Dysmorphism(s) + MCA	5	7.14	2	4	4	3.81	0.573256
Dysmorphism(s) + epilepsy	0	0.00	0	0	0	0.00	NA
MCA + epilepsy	2	2.86	0	0	2	1.90	NA
Dysmorphism(s) + MCA + epilepsy	0	0.00	0	0	0	0.00	NA
Other	0	0.00	0	0	1	0.95	NA

MCA multiple congenital anomalies, NDD neurodevelopmental disorders
Results significant for likely benign CNVs (bold); results significant for pathogenic CNVs (bold and italic)

ISSN: 1824-7288