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 3 Values are median (IQR) unless otherwise stated

	Likely benign n = 170	Pathogenic n = 81	Likely pathogenic n = 72	Test value and overall p value	Comparison group	Post-hoc p value
Size (Kb)	234.5 (263)	2938.0 (5686)	1150.0 (3317)	X² = 14.149 p < 0.0001	P vs. LB	< 0.0001
					P vs. LP	< 0.0001
					LP vs. LB	< 0.0001
Contained genes	1.5 (2)	27.0 (38)	10 (22)	X² = 20.750 p < 0.0001	P vs. LB	< 0.0001
					P vs. LP	< 0.0001
					LP vs. LB	< 0.0001
Genes protein coding	2.0 (2)	29.0 (38)	11 (23)	X² = 20.058 p < 0.0001	P vs. LB	< 0.0001
					P vs. LP	< 0.0001
					LP vs. LB	< 0.0001
Disease genes (morbid)	0.6 (1)	5.0 (9)	2 (4)	X² = 15.154 p < 0.0001	P vs. LB	< 0.0001
					P vs. LP	< 0.0001
					LP vs. LB	< 0.0001
Interrupted genes, n (%)
0	44 (25.9)	26 (32.1)	16 (22.2)	X² = 2.005; p = 0.367	AC	NS
1	77 (45.3)	37 (45.7)	39 (54.2)	X² = 1.721; p = 0.423	AC	NS
2	49 (28.8)	17 (21.0)	17 (23.6)	X² = 1.975; p = 0.372	AC	NS
3	0 (0)	1 (1.2)	0 (0)	NA	AC	NS
Inheritance, n (%)
Paternal	75 (50.0)	7 (10.0)	13 (20.6)	X² = 40.323; p < 0.0001	LB vs. P	< 0.0001
					LB vs. LP	< 0.0001
					P vs. LP	NS
Maternal	67 (44.7)	6 (8.6)	20 (31.7)	X² = 28.230 p < 0.0001	LB vs. P	< 0.0001
					LB vs. LP	NS
					LP vs. P	0.001
De novo	8 (5.3)	57 (81.4)	30 (47.6)	X² = 28.230 p < 0.0001	P vs. LB	< 0.0001
					P vs. LP	< 0.0001
					LP vs. LB	< 0.0001
Type, n (%)
Deletion	61 (35.9)	57 (70.4)	37 (51.4)	X² = 26.573; p < 0.0001	P vs. LB	< 0.0001
					P vs. LP	NS
					LP vs. LB	NS
Duplication	103 (60.6)	22 (27.1)	32 (44.4)	X² = 25.182; p < 0.0001	LB vs. P	< 0.0001
					P vs. LP	NS
					LP vs. LB	NS
Others	6 (3.5)	2 (2.5)	3 (4.2)	X² = 0.351; p = 0.839	AC	NS

X² Pearson’s or Kruskal Wallis Chi-Square test, LB likely benign, P pathogenic, LP likely pathogenic, AC all post-hoc comparisons, NA not applicable, NS not significant

ISSN: 1824-7288