Table 2.
Pathogenic CNVs and variants of unknown significance detected by chromosomal microarray analysis (CMA) in fetuses with CNS anomalies.
| Case number | GA | CNS anomalies | Associated anomalies | CMA result | Size (Mb) | CNV type | OMIM or corresponding disorder |
|---|---|---|---|---|---|---|---|
| 1 | 23+ | Holoprosencephaly, single nostril | No | arr7q36. (155,473,296–158,909,738) × 1 |
3.44 | Loss | SHH gene (∗600725) |
|
| |||||||
| 2 | 22+ | Hydrocephaly | No | arr22q11.21 (18,648,855–21,800,471) × 3 |
3.15 | Gain | 22q11.2 duplication syndrome (#608363) |
|
| |||||||
| 3 | 25+ | Dandy-Walker syndrome | VSD PLSVC |
arr2q13q14.1 (111,596,906–114,844,660) × 1 |
3.25 | Loss | PAX8 (∗167415) IL1B (∗147720) MERTK (∗604705) IL1RN (∗147679) |
|
| |||||||
| 4 | 23+ | Dandy-Walker syndrome | Skeletal dysplasia lip and palate cleft absence of septum pellucidum arachnoid cyst |
arrXq13.3 (74,171,888–74,343,340) × 1 |
0.17 | Loss | ABC7 (∗300135) |
|
| |||||||
| 5 | 23+ | Holoprosencephaly | Lip and palate cleft | arr2p21 (44,749,075–45,098,283) × 1 |
0.34 | Loss | SIX 3 gene (∗603714) |
|
| |||||||
| 6 | 21+ | Exencephaly | No | arr19p12p13.11 (19,838,485–23,868,512) × 1 |
4.03 | Loss | |
|
| |||||||
| 7 | 24+ | Holoprosencephaly | VSD facial anomaly |
arr4q35.2 (187,979,723–190,767,114) × 1 |
2.79 | Loss | |
|
| |||||||
| 8 | 25+ | Hydrocephaly | Thickened NF IUGR sacrococcygeal vertebral anomaly |
arr 21q21.1 (22,508,434–23,663,338) × 1 |
1.15 | Loss | |
GA, gestational weeks; VSD, ventricular septal defect; PLSVC, persistent left superior vena cava; NF, nuchal fold; IUGR, intrauterine growth retardation.
Human genome build was hg19.