Table 5.
Frequency of Copy Number Variants Seen in Patients With Ultrasonographically Detected Anomalies
| CNV | Deletion | Duplication | Total (N=61) | % |
|---|---|---|---|---|
| 22q11.21 | 10 | 1 | 11 | 18.0% |
| 17q12 | 5 | 1 | 6 | 9.8% |
| 16p13.11 | 4 | 2 | 6 | 9.8% |
| 1q21.1 | - | 3 | 3 | 4.9% |
| 10q21.1 | 2 | - | 2 | 3.3% |
| 15q13.3* | - | 2 | 2 | 3.3% |
| Single occurrence | 17 | 14 | 31 | 50.8% |
*
Two patients had two separate copy number variants identified, however this table counts only 1 copy number variant per patient. A third duplication of 15q13.3 was seen in conjunction with the 22q11.21 duplication listed in the table, and one patient had 2 single-occurrence copy number variants.