Table 1.

Abnormal results chromosome microarray analysis & exome sequencing.

Structural chromosome anomalies (CMA)		Sequence variants (ES)
Pathogenic	63(8.9%)	Pathogenic	33(4.7%)
22q11.2 syndrome	30	CHARGE syndrome	5
1q21.1 deletion syndrome	3	Kabuki syndrome	3
16p11.2 deletion syndrome	2	Noonan syndrome	3
Beckwith-Wiedemann syndr.	1	Tuberous sclerosis complex	3
Cri du chat syndrome	1	Alagille syndrome	2
Phelan-McDermid syndrome	1	CM-AVM syndrome	1
Ringchromosome 20 syndr.	1	Cornelia de Lange syndrome	1
Waardenburg syndrome	1	Jeune syndrome	1
Williams syndrome	1	Rubinstein-Taybi syndrome	1
6p25 microdeletion syndr.	1	Schaaf-Yang syndrome	1
8p23.1 microdeletion syndr.	1	Smith-Lemli-Opitz syndrome	1
13q deletion syndrome	1
15q11-13 duplication syndr.	1
18p deletion syndrome	1
Others	17	Others	11
Likely pathogenic	7 (1.0%)	Likely pathogenic	8 (1.1%)
Uncertain significance	19 (2.7%)	Uncertain significance	20 (2.8%)
Likely benign	23 (3.2%)	Likely benign	0 (0.0%)
Benign	3 (0.4%)	Benign	0 (0.0%)
Total (without (likely) benign)	89 (12.6%)	Total (without (likely) benign)	61 (8.6%)

Data are given as n (%).

Syndr. syndrome,CM-AVM Capillary malformation-arteriovenous malformation syndrome.

The American College of Medical Genetics and Genomics’ and the Association for Molecular Pathology’s guideline for interpreting copy number variations and sequence variants was used to categorize genetic variants into the five categories displayed above.