Table 2 Pathogenic or likely pathogenic CNVs recurrently occurring in the 1118 fetuses with CHDs
Hot spotsites | Genomic region | Incidence n (%) | CNV (ISCN nomenclature) | Size (Mb) | Origin | Cardiac phenotypes | CNVs associated disorders |
|---|---|---|---|---|---|---|---|
22q11.21 | Proximal, A-D (includes TBX1) | 23 (2.1) | 22q11.21(18912231_21465672)×1* | 2.55 | 21 Dn, 1 Pat, 1 Unk | Various types § | 22q11.21 proximal deletion syndrome |
|  | Central, B/C-D (includes CRKL) | 3 (0.3) | 22q11.21(20782219_21915509)×1 | 1.13 | Dn | HLHS+DORV | 22q11.21 central deletion syndrome |
|  |  | 22q11.21(21049799_21798907)×1 | 0.75 | Dn | TOF | ||
|  |  | 22q11.21(20716876_21465659)×1 | 0.75 | Dn | TOF | ||
|  | Proximal, A-B (includes TBX1) | 2 (0.2) | 22q11.21(18916842_20311858)×1 | 1.40 | Dn | TOF | 22q11.21 proximal deletion syndrome |
|  |  | 22q11.1q11.21(16888899_20312661)×3 | 3.42 | Dn | Heterotaxy | 22q11.21 proximal duplication syndrome | |
16p11.2 | Proximal, BP4-BP5 (includes TBX6) | 11 (1.0) | 16p11.2(29649997_30199852)×1* | 0.55 | 8 Dn, 2 Unk | Various types & | 16p11.2 proximal microdeletion syndrome |
|  |  | 16p11.2(29649997_30199852)×3 | 0.55 | Dn | PA | 16p11.2 proximal microduplication syndrome | |
|  | Distal,BP2-BP3 (includes SH2B1) | 1 (0.1) | 16p11.2(28807417_29051191)×1 | 0.24 | Dn | VSD+COA | 16p11.2 distal microdeletion syndrome |
16p13.11 | BP2-BP3 (include MYH11) | 4 (0.4) | 16p13.11(15054310_16328840)×3 | 1.27 | Dn | TOF | 16p13.11 recurrent microduplication/ microdeletion (neurocognitive disorder susceptibility locus) |
|  |  | 16p13.11p12.3(14892880_16861991)×3 | 1.97 | Unk | COA | ||
|  |  | 16p13.11(15481921_16309165)×3 | 0.83 | Unk | VSD+COA | ||
|  |  | 16p13.12p13.11(14780543_16525377)×1 | 1.75 | Dn | VSD+COA | ||
2q37.3 | 2q37.3 terminal region (includes HDAC4) | 3 (0.3) | 2q37.1q37.3(234702757_242684920)×1 | 7.98 | Dn | PVS | 2q37 microdeletion syndrome |
|  |  | 2q37.2q37.3(237180727_242783384)×1 | 5.60 | Dn | HLHS | ||
|  |  | 2q37.3(238892333_242783384)×1 | 3.89 | Dn | Ebstein anomaly | ||
4p16.3 | 4p16.3 terminal region | 3 (0.3) | 4p16.3(1321249_3004266)×1 | 1.68 | Dn | TOF | Wolf-Hirschhorn syndrome |
|  |  | 4p16.3(68345_3950060)×1 | 3.88 | Dn | VSD+COA | ||
|  |  | 4p16.3p15.1(68345_29838983)×1 | 29.77 | Dn | VSD+COA | ||
12p | Isochromosome12p | 3 (0.3) | 12p13.33p11.1(173786_34788041)×3 | 34.61 | Dn | HLHS | Pallister-Killian syndrome |
|  |  | 12p13.33q12(173786_43520161)×3 | 43.35 | Dn | HLHS | ||
|  |  | 12p13.33q13.11(173786_48680002)×3 [0.87] | 48.51 | Dn | VSD | ||
1q21.2 | distal, BP3-BP4 (includes GJA5) | 2 (0.2) | 1q21.1q21.2(145382123_147819815)×3 | 2.44 | Unk | PAVPR | 1q21.1 duplication syndrome |
|  |  | 1q21.1q21.2(146105170_147897962)×3 | 1.79 | Pat | VSD | ||
|  | Proximal, BP2_BP3 (includes RBM8A) and distal, BP3_BP4 (includes GJA5) | 1 (0.1) | 1q21.1q21.2(145070868_148661862)×1 | 3.59 | Mat | d-TGA | Class II 1q21.1 microdeletion syndrome |
7q11.23 | 7q11.23 recurrent region (includes ELN) | 2 (0.2) | 7q11.23(72668413_74242132)×1 | 1.57 | Dn | COA | Williams-Beuren syndrome |
|  |  | 7q11.23(72701084_74142190)×1 | 1.44 | Dn | PVS | ||
8p23.1 | 8p23.1 recurrentregion (includes GATA4) | 2 (0.2) | 8p23.1(8093066_11888779)×1 | 3.80 | Dn | VSD | 8p23.1 deletion syndrome |
|  |  | 8p23.1(8093066_11935465)×1 | 3.84 | Dn | ASD | ||
8q24 | 8q24.12q24.3 # | 2 (0.2) | 8q24.12q24.3(119261902_146295771)×6-7 | 27.03 | Dn | AVSD | 8q24.12-q24.3 segment amplification |
|  |  | 8q24.12q24.3(119328435_146295771)×6–7 | 26.97 | Dn | VSD + ASD | ||
9p24 | 9p24.3 | 2 (0.2) | 9p24.3p24.1(208455_7240918)×1[0.6] | 7.03 | Dn | COA | 46,XY sex reversal 4 (9p24.3 deletionsyndrome) |
|  |  | 9p24.3p24.2(203861_4199819)×1 | 4.00 | Dn | HLHS | ||
11p15 | 11p15 region (includes H19, KCNQ1) | 2 (0.2) | 11p15.5p15.4(230615_3413174)×3 | 3.18 | Dn | VSD + COA | Beckwith-Wiedemann syndrome/Silver-Russell syndrome |
|  |  | 11p15.5p15.4(230615_10481292)×3 | 10.25 | Dn | COA | ||
15q11.2 | BP1_BP2 (includesNIPA1) | 2 (0.2) | 15q11.2(22770421_23283811)×1 | 0.51 | Dn | PVS | 15q11.2 deletion syndrome |
|  |  | 15q11.2(22770422_23082328)×1 | 0.31 | Mat | VSD | ||
17p12 | HNPP/CMT1A region (includes PMP22) | 2 (0.2) | 17p12(14087933_15484858)×1 | 1.40 | Dn | VSD | Hereditary neuropathy with liability to pressure palsies |
|  |  | 17p12(15051374_15882070)×1 | 0.83 | Pat | PAVPR | ||
18q22-q23 | 18q22-q23# | 2 (0.2) | 18q22.1q23(65501409_78014123)×3 | 12.51 | Dn | DORV | 18q22-q23 duplication |
|  |  | 18q22.2q23(68598182_78014123)×3 | 9.42 | Dn | HLHS |