Table 3 CNVs of unknown clinical relevance (due to unknown parental inheritance)
Case id | Pregnancy trimester | Clinical features | Array platform | Size (kb) | Chrom region | Start-end Mb position (Hg19) | C CNV | Ref Seq (and/or disease-causing OMIM) genes involved (UCSC feb 2009) |
|---|---|---|---|---|---|---|---|---|
2 | second | Suspect twin to twin transfusion syndrome (TTTS), clenched fist both hands, monozygotic twin | 250Â k | 663 | 4q34.1 | 173762947-174426181 | loss | GALNTL6, GALNT7, HMGB2, SAP30, SCRG1 |
7 | second | IUGR | 250Â k | 447 | 3q21.2 | 125498921-125945498 | gain | MIR548I1, FAM86JP, ALG1L, ROPN1B, SLC411A3, ALDH1L1, ALDH1L1-AS1 and AS2 |
12 | second | MCA | 250Â k | 587 | 2p12 | 77036873-77624262 | loss | LRRTM4 |
14 | second | Unknown, recurrent IUFD | 250Â k | 1,200 | 6q16.1 | 95641761-96851236 | gain | MANEA, FUT9, MANEA-AS1 |
16 | second | Hygroma colli | 250Â k | 1,400 | 1q21.1 | 143570846-144929606 | loss | >10 RefSeq genes*, mutation analysis for Noonan genes: NRAS, SHOC2, GBL, RAF1, SOS1, KRAS, PTPN11 negative |
21 | third | Hydrocephaly | CytoScan® HD | 383 | 16p13.3 | 3945203-4328143 | loss | ADCY9, SRL, LOC100507501,TFAP4 (proximal to OMIM gene CREBBP) |
30 | second | Potter’s sequence, renal agenesis, facial dysmorfisms, single palmar crease | 250 k | 1,005 | 1p32.3 | 53484565-54489583 | gain | >10 RefSeq genes* and 3 disease-causing OMIM genes: SCP2, CPT2, LRP8 |
34 | unknown | unknown | CytoScan® HD | 830 | 3p24.1 | 26641410-27471832 | gain | LRRC3B, NEK10, SLC4A7 |
39 | second | None | CytoScan® HD | 828 | Xq28 | 148839499-149667835 | gain | MAGEA9B, MAGEA9, MAGEA8-AS1, MAGEA8, CXorf40B, LINC00894, MIR2114 and 1 disease-causing OMIM gene: MAMLD1 |
47 | second | None | CytoScan® HD | 358 | 18q21.2 | 52900743-53258705 | gain | MIR4529 and disease-causing OMIM gene TCF4. Duplication TCF4 confirmed by MLPA. |
50 | third | None | CytoScan® HD | 545 | 8p21.3p22 | 18825888-19370744 | loss | FSD3, LOC100128993, SH2D4A, CSGALNACT1 |
20 | third | None | CytoScan® HD | 490 | 3q29 | 196592132-197081797 | gain | SENP5, NCBP2, NCBP2-AS2, PIG2, MFI2, MFI2-AS1, DLG1, DLG1-AS1, MIR4797 |
55 | second | None | CytoScan® HD | 611 | 16p11.2 | 29567296-30177917 | loss | >10 RefSeq genes* and 3 disease-causing OMIM genes: KIF22, PRRT2, ALDOA |
56 | second | Unknown | CytoScan® HD | 767 | 22q11.21 | 21033398-21800798 | loss | >10 RefSeq genes* and 2 disease-causing OMIM genes: HCF2, SNPA29 |
59 | third | None | CytoScan® HD | 266 | 8p23.3 | 158049-423802 | loss | RPL23AP53, ZNT596, FAM87A, FBX025 |