Phenotype of structural abnormalities Case identified by CNV-seq Case identified by karyotyping
steroid sulphatase deficiency (STS gene) 4 0
22q11 duplication syndrome 9 0
22q11 deletion syndrome (DiGeorge syndrome) 7 0
7q11.23 duplication syndrome 3 0
2q37 monosomy syndrome 2 1
Cri du Chat Syndrome (5p deletion) 2 1
Williams-Beuren Syndrome (WBS) 2 0
8p23.1 deletion syndrome 2 2
18p deletion syndrome 2 0
Split hand/foot malformation 1 (SHFM1)syndrome 1 1
7q terminal deletion syndrome 1 1
AZFa, AZFb, AZFb+AZFc, AZFc syndrome 1 1
Xq28 (MECP2) microduplication syndrome 1 0
Wolf-Hirschhorn Syndrome 1 0
1q21.1 recurrent microdeletion syndrome 1 0
15q26.3 deletion syndrome 1 1
12p13.33 Microdeletion Syndrome 1 0
22q11.2 distal deletion syndrome 1 0
8p23.1 duplication syndrome 1 0
15q11q13 duplication syndrome 1 0
9q subtelomeric deletion syndrome 1 0
RCAD (renal cysts and diabetes) syndrome 1 0
Smith-Magenis syndrome 1 0
Other(non-syndromic or non-monogenic disease) 32 22
total 79 30