表 3. Pathogenic CNVs in 51 fetuses.
51例致病性CNVs结果
| No. | a-CGH results | Known syndromes | Copy number | Sizes of CNVs/kb | OMIM gene | Inherited /
or de novo |
| CNVs: Copy number variants; OMIM: Online mendelian inheritance in man; CAMTA1: Calmodulin-binding transcription activator; GJA5: Gap junction protein alpha-5; PAK2: P21-activated kinase; DLG1: Discs large homolog 1; GLI3: Greig cephalopolysyndactyly syndrome; DMRT1: Doublesex and mab-3 related transcription factor; ZIC2: Zic family member 2; CHAMP1: Chromosome alignment maintaining phosphoprotein 1; MYH11: Myosin, heavy chain 11, smooth muscle; EEF2K: Eukaryotic elongation factor 2 kinase; CDR2: Cerebellar degeneration-related autoantigen 2; TBX6: T-box transcription factor 6;PMP22: Peripheral myelin protein 22; NF1: Neurofibromin 1;TGIF1：TGEB-induced factor homeobox 1; TBX1: Congenital heart disease associated protein 1; DMD: Duchenne muscular dystrophy; STS: Steroid sulphatase deficiency; KAL1: Kallmann syndrome 1 sequence; TERT:Telomerase reverse transcriptase. | ||||||
| 1 | arr[GRCh37] 1p36.31p36.23(5588468_
8898638)x1 |
/ | Loss | 3 310 | CAMTA1 | de novo |
| 2-4 | arr[GRCh37] 1q21.1q21.2(146531538_
147384520)x1 |
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) | Loss | 853 | GJA5/GJA8 | NA |
| 5 | arr[GRCh37] 3q29(195769570_197332975)x3 | 3q29 microduplication syndrome | Gain | 1 563 | PAK2/DLG1 | NA |
| 6 | arr[GRCh37] 7p14.1p12.3(42052240_
45611137)x1 |
/ | Loss | 3 559 | GLI3 | NA |
| 7 | arr[GRCh37] 9p24.3(742688_1044097)x1 | / | Loss | 301 | DMRT1 | NA |
| 8 | arr[GRCh37] 10q11.22q11.23(46980161_
50940524)x1 |
10q11.2 recurrent region (LCR-C to -D) | Loss | 3 960 | / | NA |
| 9 | arr[GRCh37] 13q32.1q34(95572054_
115091801)x1 |
/ | Loss | 19 520 | ZIC2/ CHAMP1 | NA |
| 10 | arr[GRCh37] 15q11.2q13.1(23717628_
28513165)x3 |
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) | Gain | 4 796 | / | Inherited from normal mother |
| 11 | arr[GRCh37] 16p13.11(15125829_16258367)x3 | 16p13.11 recurrent region (includes MYH11) | Gain | 1 133 | MYH11 | NA |
| 12 | arr[GRCh37] 16p13.11(15125829_16276115)x3 | 16p13.11 recurrent region (includes MYH11) | Gain | 1 150 | MYH11 | NA |
| 13 | arr[GRCh37] 16p13.11(15125829_16287899)x3 | 16p13.11 recurrent region (includes MYH11) | Gain | 1162 | MYH11 | NA |
| 14 | arr[GRCh37] 16p13.11(15125829_16287899)x3 | 16p13.11 recurrent region (includes MYH11) | Gain | 1 162 | MYH11 | Inherited from normal mother |
| 15 | arr[GRCh37] 16p12.2(21950360_22428364)x1 | 16p12.2 recurrent deletion | Loss | 478 |
EEF2K/
CDR2 |
NA |
| 16 | arr[GRCh37] 16p11.2(29657192_30188268)x1 | 16p11.2 recurrent microdeletion | Loss | 531 | TBX6 | NA |
| 17-18 | arr[GRCh37] 17p12(14104475_15420102)x1 | Hereditary Liability to Pressure Palsies, HNPP | Loss | 1 316 | PMP22 | NA |
| 19 | arr[GRCh37] 17q11.2(29599688_29812361)x1 | / | Loss | 213 | NF1 | NA |
| 20 | arr[GRCh37] 21q22.11q22.3(33655833_48091215)x3 | / | Loss | 4661 | TGIF1 | NA |
| arr[GRCh37] 21q22.11q22.3(33655833_48091215)x3 | / | Gain | 14435 | / | NA | |
| 21-23 | arr[GRCh37] 22q11.21(18919528_21417548)x3 | 22q11 duplication syndrome | Gain | 2 498 | TBX1 | NA |
| 24 | arr[GRCh37] 22q11.21(18919528_21417548)x3 | 22q11 duplication syndrome | Gain | 2 498 | TBX1 | de novo |
| 25 | arr[GRCh37] 22q11.21(18919528_21417548)x3 | 22q11 duplication syndrome | Gain | 2 498 | TBX1 | Inherited from normal mother |
| 26 | arr[hg19] 22q11.21(19243462_21417548)x3 | 22q11 duplication syndrome | Gain | 2 174 | TBX1 | NA |
| 27 | arr[GRCh37] Xp21.1(32985546_34217926)x3 | / | Gain | 1 232 | DMD | Inherited from normal mother |
| 28-31 | arr[GRCh37] Xp22.31(6456777_8119328)x0 | Steroid sulphatase deficiency | Loss | 1 663 | STS | NA |
| 32 | arr[GRCh37] Xp22.31(6456777_8119328)x0 | Steroid sulphatase deficiency | Loss | 1 663 | STS | Inherited from normal mother |
| 33 | arr[GRCh37] Xp22.31(6522054_7974296)x0 | Steroid sulphatase deficiency | Loss | 1 452 | STS | NA |
| 34 | arr[GRCh37] Xp22.31(6735844_7903465)x1 | Steroid sulphatase deficiency | Loss | 1 168 | STS | NA |
| 35-36 | arr[GRCh37] Xp22.31(6456777_8119328)x1 | Steroid sulphatase deficiency | Loss | 1 663 | STS | NA |
| 37 | arr[GRCh37] Xp22.31(8515091_8927293)x2 | / | Gain | 412 | KAL1 | NA |
| 38 | arr[GRCh37] Xp21.1(31766614_31988723)x0 | / | Loss | 222 | DMD | NA |
| 39 | arr[GRCh37] 2p25.3p24.1(36400_22973063)x3 | / | Gain | 22 937 | / | NA |
| arr[GRCh37] 5p15.33p15.32(55550_5839620)x1 | Cri du Chat Syndrome (5p deletion) | Loss | 5 784 | TERT | NA | |
| 40 | arr[GRCh37] 16p13.11(15049829_16287899)x1 | 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) | Loss | 1 238 | MYH11 | NA |
| 41 | arr[GRCh37] 16p12.2(21950360_22428364)x1 | Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) | Loss | 478 | EEF2K, CDR2 | NA |
| 42 | arr[GRCh37] 16p13.11(15125829_16258367)x3 | 16p13.11 recurrent region (includes MYH11) | Gain | 1 133 | MYH11 | NA |
| 43 | arr[GRCh37] 16p11.2(29657192_30188268)x3 | 16p11.2 microduplication syndrome | Gain | 531 | TBX6 | NA |
| 44 | arr[GRCh37] Xp21.1(31555212_31928887)x1 | / | Loss | 374 | DMD | NA |
| 45-46 | arr[GRCh37] 17p12(14104475_15420102)x1 | Hereditary Liability to Pressure Palsies (HNPP) | Loss | 1 316 | PMP22 | NA |
| 47 | arr[GRCh37] 17p12(14104475_15420102)x3 | Charcot-Marie-Tooth syndrome type 1A (CMT1A) | Gain | 1 316 | / | NA |
| 48 | arr[GRCh37] Xp22.31(6456777_8119328)x0 | Steroid sulphatase deficiency | Loss | 1 663 | STS | NA |
| 49 | arr[GRCh37] Xp22.31(6456777_8119328)x0 | Steroid sulphatase deficiency | Loss | 1 663 | STS | Inherited from normal mother |
| 50 | arr Xp22.32p22.31(5322881_8150451)x1 | Steroid sulphatase deficiency | Loss | 2 828 | STS | NA |
| 51 | arr[GRCh37] Xp22.33q22.1(2772612_
99378367)x1.41 |
/ | Loss | 96 606 | / | NA |
| arr[GRCh37] Xq22.1q28(99460272_
154882516)x1 |
/ | Loss | 55 422 | / | NA | |