表 4. Likely pathogenic CNVs in 11 fetuses.
11例可能致病性CNVs结果
| No. | Age/
yr. |
a-CGH results | Known syndromes | Sizes of
CNVs/kb |
Copy
number |
OMIM
gene |
Inherited or
de novo |
| TAR: Thrombocytopenia-absent radius syndrome; AZFb: Azoospermia factor area B; RBM8A: RNA-binding motif protein 8A; CNTN4: Contactin 4; YTHDC1: YTH domain-containing protein 1; CRKL: V-CRK avian sarcoma virus ct10 oncogene homolog-like. CNVs，OMIM，MYH11, CMT1A, PMP22: Notes same as the table 3. | |||||||
| 25 | 36 | arr[GRCh37] 1q21.1
(145388977_145746492)x1 |
1q21.1 recurrent (TAR syndrome)
region (BP2-BP3, proximal) (includes RBM8A) |
358 | Loss | RBM8A | de novo |
| 26 | 36 | arr[GRCh37] 3p26.3p26.2
(101072_3576969)x1 |
/ | 3 476 | Loss | CNTN4/CNTN6 | de novo |
| 27 | 37 | arr[GRCh37] 4q13.2q21.23
(68632189_85505332)x1 |
/ | 16 873 | Loss | YTHDC1 | de novo |
| 28 | 37 | arr[GRCh37] 16p13.11
(15125829_16282387)x3 |
16p13.11 recurrent microduplication
(neurocognitive disorder susceptibility locus) (77.1%) |
1 157 | Gain | MYH11 | de novo |
| 29 | 40 | arr[GRCh37] 16p13.11p12.3
(15512480_18128488)x3 |
16p13.11 recurrent microduplication
(neurocognitive disorder susceptibility locus) (64.9%) |
2 616 | Gain | MYH11 | de novo |
| 30 | 36 | arr[GRCh37] 17p12
(13478126_14621537)x3 |
Charcot-Marie-Tooth syndrome type 1A
(CMT1A) (38.1%) |
1 143 | Gain | PMP22 | de novo |
| 31 | 35 | arr[GRCh37] 22q11.21
(20734765_21417548)x3 |
22q11.2 recurrent region
(central, B/C-D) (includes CRKL) |
683 | Gain | CRKL | de novo |
| 32 | 37 | arr[GRCh37] 22q11.21
(20734765_21417548)x3 |
22q11.2 recurrent region
(central, B/C-D) (includes CRKL) |
683 | Gain | CRKL | de novo |
| 33 | 42 | arr[GRCh37] 22q11.21
(20734765_21417548)x3 |
22q11.2 recurrent region
(central, B/C-D) (includes CRKL) |
683 | Gain | CRKL | de novo |
| 34 | 35 | arr[GRCh37] Xp21.3p21.1
(26014588_34408233)x2 |
/ | 8 394 | Gain | / | de novo |
| 35 | 34 | arr[GRCh37] Yq11.222q11.223
(20812161_24396347)x0 |
AZFb (60.3%) | 3 584 | Loss | / | de novo |