表 3. Pathogenic CNVs in 24 fetuses.
24例致病性CNVs结果
| No. | Age/
yr. |
a-CGH
results |
Known
syndromes |
Sizes of
CNVs/kb |
Copy
number |
OMIM
gene |
Inherited or
de novo |
| CNVs: Copy number variations; OMIM: Online mendelian inheritance in man; HNPP: Hereditary liability to pressure palsies; CMT1A: Charcot-marie-tooth syndrome type 1A; RCAD: Renal cysts and diabetes; STS: Steroid sμlphatase deficiency; PWS: Prader-Willi syndrome; AS: Angelman syndrome; AZFc: Azoospermia factor area C; DMD: Duchenne muscular dystrophy; GJA: Gap junction protein, alpha; MYH11: Myosin, heavy chain 11, smooth muscle; AUTS2: Autism susceptibility candidate 2; ZIC2: Zic family, member 2; PMP22: Peripheral myelin protein 22; TBX6: T-box transcription factor 6; EEF2K: Eukaryotic elongation factor 2 kinase; CDR2: Cerebellar degeneration-related autoantigen 2; NF1: Neurofibromin 1; RNF135: Ring finger protein 135; HNF1B: HNF1 homeobox B; PTCHD1: Patched domain-containing protein 1. | |||||||
| 1 | 41 | arr[GRCh37] 1q21.1q21.2
(146531538_147384520)x1 |
1q21.1 recurrent region
(BP3-BP4, distal) (includes GJA5) |
853 | Loss | GJA5/GJA8 | de novo |
| 2 | 36 | arr[GRCh37] 7q11.22
(69578697_70026776)x1 |
/ | 448 | Loss | AUTS2 | NA |
| 3 | 38 | arr[GRCh37] 13q31.1q33.3
(82493401_109273215)x1 |
/ | 26 780 | Loss | ZIC2 | NA |
| 4 | 37 | arr[GRCh37] 15q11.2q13.1
(22822019_28513165)x3 |
15q11q13 recurrent (PWS/AS) region
(BP1-BP3, Class 1) |
5 691 | Gain | / | de novo |
| 5 | 36 | arr[GRCh37] 16p13.11
(15049829_16271357)x1 |
16p13.11 recurrent microdeletion
(neurocognitive disorder susceptibility locus) |
1 222 | Loss | MYH11 | NA |
| 6 | 37 | arr[GRCh37] 16p13.11
(15049829_16275530)x1 |
16p13.11recurrent microdeletion
(neurocognitive disorder susceptibility locus) |
1 226 | Loss | MYH11 | NA |
| 7 | 34 | arr[GRCh37] 16p13.11
(15049829_16287899)x1 |
16p13.11recurrent microdeletion
(neurocognitive disorder susceptibility locus) |
1 238 | Loss | MYH11 | NA |
| 8 | 35 | arr[GRCh37] 16p13.11
(15049829_16287899)x1 |
16p13.11recurrent microdeletion
(neurocognitive disorder susceptibility locus) |
1 238 | Loss | MYH11 | Inherited from
normal father |
| 9 | 36 | arr[GRCh37] 16p13.11p12.3
(15512480_18128488)x3 |
16p13.11 recurrent region
(includes MYH11) |
2 616 | Loss | MYH11 | NA |
| 10 | 36 | arr[GRCh37] 16p13.11p12.3
(15512480_18128488)x1 |
16p13.11 recurrent region
(includes MYH11) |
2 616 | Loss | MYH11 | NA |
| arr[GRCh37]
17p12(14104475_15420102)x1 |
HNPP | 1 316 | Loss | PMP22 | |||
| 11 | 36 | arr[GRCh37] 16p13.11
(15049829_16287899)x1 |
16p13.11recurrent microdeletion
(neurocognitive disorder susceptibility locus) |
1 238 | Loss | MYH11 | de novo |
| 12 | 35 | arr[GRCh37] 16p11.2
(29657192_30188268)x3 |
16p11.2 microduplication syndrome | 531 | Gain | TBX6 | NA |
| 13 | 37 | arr[GRCh37] 16p12.2
(21950360_22428364)x1 |
Recurrent 16p12.1 microdeletion
(neurodevelopmental susceptibility locus) |
478 | Loss | EEF2K, CDR2 | Inherited from
normal mother |
| 14 | 40 | arr[GRCh37] 17p12
(14104475_15420102)x1 |
HNPP | 1 316 | Loss | PMP22 | Inherited from
normal mother |
| 15 | 42 | arr[GRCh37] 17p12
(14104475_15420102)x3 |
CMT1A | 1 316 | Gain | PMP22 | NA |
| 16 | 37 | arr[GRCh37] 17q11.2
(29116494_30314406)x1 |
NF1-microdeletion syndrome | 1 198 | Loss | NF1/RNF135 | NA |
| 17 | 39 | arr[GRCh37] 17q12
(34816424_36207539)x1 |
RCAD | 1 391 | Loss | HNF1B | NA |
| 18 | 36 | arr[GRCh37] 22q11.21
(18483068_20745885)x1 |
22q11 deletion syndrome
(Velocardiofacial/DiGeorge syndrome) |
2 263 | Loss | TBX1 | NA |
| 19 | 37 | arr[GRCh37] 22q11.21
(18919528_21417548)x1 |
22q11 deletion syndrome
(Velocardiofacial/DiGeorge syndrome) |
2 498 | Loss | TBX1 | NA |
| 20 | 35 | arr[GRCh37] 22q11.21
(18919528_21417548)x3 |
22q11 duplicationsyndrome | 2 498 | Gain | / | NA |
| 21 | 36 | arr[GRCh37] Xp22.31
(6456777_8119328)x0 |
STS | 1 663 | Loss | STS | NA |
| 22 | 34 | arr[GRCh37] Xp22.11
(23112972_23436276)x0 |
/ | 323 | Loss | PTCHD1 | NA |
| 23 | 36 | arr[GRCh37] Xp21.1
(32201247_33179950)x3 |
/ | 979 | Gain | DMD | Inherited from
normal mother |
| 24 | 37 | arr[GRCh37] Yq11.223q11.23
(25296950_28556002)x0 |
AZFc | 3 259 | Loss | / | NA |