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 |