Table 2 CNVs that are clinically relevant (N = 7)
Case id | Pregnancy trimester | Clinical features | Array platform | Size (Mb) | Chromosomal region | Start-end Mb position (Hg19) | CNV | Disease-causing OMIM genes involved (UCSC feb 2009) |
|---|---|---|---|---|---|---|---|---|
60 | first | Hydrops fetalis | CytoScan® HD | 8.4 | 3p24.2p24.3 | 17269256-25630783 | loss | THRB |
206 | unknown | MCA | 250Â k | 8.4 | 17q23.1q25.3 | 70175362-78598059 | gain | ~ 19 genes* |
26.8 | 18q21.2q23 | 49229300-76115293 | loss | ~ 13 genes* | ||||
| Â | Â | Â | t(17;18)pat | Â | ||||
212 | third | Unilateral talipes calcaneovalgus, unilateral ear tag | 250Â k | 11.8 | 5p15.2p15.33 | 81949-11834131 | dn loss | SDHA, SCL6A19, TERT, SLC6A3, NDUFS6, NSUN2, MTRR, CCT5 |
4.3 | 5p15.1p15.2 | 11857228-16124168 | dn gain | DNAH5, ANKH | ||||
274 | second | Edema (hands and feet) | CytoScan® HD | 48.0 | 1q32.1q44 | 201214014-249224685 | dn gain | ~50 genes* |
| Â | 1.1 | 9p24.3 | 203862-1293115 | dn loss | DOCK8, KANK1 | |||
| Â | Â | Â | Â | 37.5 | 9p13.1p24.3 | 1293354-38787480 | dn gain | ~30 genes* |
296 | second | Hypertelorism, micrognathia, microencephaly, flat face | CytoScan® HD | 3.2 | 22q11.21 | 18644791-21800798 | dn loss | PRODH, GP1BB, TBX1, COMT, RTN4R, SCARF2, HCF2, SNAP29 |
309 | first | Exencephaly | CytoScan® HD | 18.4 | 18p11.32p11.1 | 136227-18521286 | dn loss | SMCHD1, LPIN2, TGIF, NDUFV2, APCDD1, GNAL, AFG3L2, MC2R |
| Â | Â | Â | Â | 19.3 | 18q21.32q23 | 58738938-78014124 | dn gain | PIGN, TNFRSF11A, BLC2, RTNN, CYB5A, TSHZ1, CTDP1 |
317 | first | Hydrops fetalis | CytoScan® HD | 23.0 | 9q22.33q33.2 | 101052575-124018186 | dn loss | ~20 genes* |