表 4. Likely pathogenic CNVs in 10 fetuses.
10例可能致病性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; BCL11A: B-cell CLL/lymphoma 11A; CHRNA7: Cholinergic receptor, nicotinic, alpha 7; MYH11: Myosin heavy chain 11, smooth muscle. | ||||||
| 52 | arr[GRCh37] 1q21.2(147277739_147712417)x3 | 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders) 32.2% | Gain | 435 | / | de novo |
| 53 | arr[GRCh37] 2p16.1p15(60320492_61592578)x3 | 2p15p16.1 region (includes BCL11A) 38.0% | Gain | 1 272 | BCL11A | de novo |
| 54 | arr[GRCh37] 2q13(111398336_113058889)x3 | 2q13 recurrent region (includes BCL2L11) | Gain | 1 661 | / | de novo |
| 55 | arr[hg19] 4q13.3q21.1(71176988_77031108)x1 | / | Loss | 5 854 | / | de novo |
| 56 | arr[GRCh37] 15q13.2q13.3(31140606_32427978)x3 | 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) | Gain | 1 287 | CHRNA7 | de novo |
| 57 | arr[GRCh37] 15q13.3(31361538_32438943)x3 | 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) | Gain | 1 077 | / | de novo |
| 58 | arr[GRCh37] 16p13.11(15512480_16246473)x3 | 16p13.11 recurrent region (includes MYH11) | Gain | 734 | / | de novo |
| 59 | arr[GRCh37] 16p13.11(15125829_16282387)x3 | 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) 77.1% | Gain | 1 157 | MYH11 | de novo |
| 60 | arr[GRCh37] 22q11.1q11.21(17528442_
17940650)x3 |
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) 34.4% | Gain | 412 | / | de novo |
| 61 | arr[GRCh37] 22q11.21q11.22(21798705_
23326623)x3 |
22q11.2 recurrent region (distal type I, D-E or D-F) 81.4% | Gain | 1 528 | / | de novo |