Table 2 The details of clinically significant copy number variations in the fetuses with ultrasound anomalies
From: Clinical utility of array comparative genomic hybridisation in prenatal setting
Case number | Ultrasound findings | aCGH results | CNV size | CNV classificationa | Related syndrome/gene or literature and comments |
|---|---|---|---|---|---|
1 | Structural heart anomaly, Hydrops | arr[hg19] 1p36.33p36.31(779,727–6,377,318)x1 dn | 5,8 Mb | P | 1p36 deletion syndrome (OMIM#607872) |
2 | Bilateral radial aplasia | arr[hg19] 1q21.1q21.2(145,415,190–145,799,602)x1 mat | 385 kb | P* | TAR syndrome (OMIM#274000) |
3 | Bilateral radial aplasia | arr[hg19] 1q21.1q21.2(145,415,190–145,799,602)x1 | 385 kb | P* | TAR syndrome (OMIM#274000) |
4 | Oral cleft, Contractures of the large joints | arr[hg19] 1q21.1q21.2(146,507,518–147,379,946)x1 mat, 4q35.2(189,247,673–190,552,305)x1 pat | 872 kb 1,3 Mb | SF Likely B | 1q21.1 deletion syndrome (OMIM#612474), including GJA5 gene |
5 | Spina bifida, hydrocephalus, polydactyly | arr[hg19] 2p25.3p22.1(23,938–41,524,241)x3 | 41,5 Mb | P | Derived from maternal balanced translocation |
6 | Cystic hygroma | arr[hg19] 2p16.3(51,109,690–51,251,557) × 1 | 141,8 kb | SF, P** | NRXN1 gene (OMIM*600565) |
7 | IUGR | arr[hg19] 2q13(111,442,130–113,065,779) × 1 pat | 1,6 Mb | VOUS | |
8 | Ventriculomegaly, ACC | arr 2q33.3q35(208,814,372–219,814,526)x3 dn | 11 Mb | P | De novo, many genes |
9 | Upper limb anomalies | arr[hg19] 5p13.2(36,952,801–37,024,752)x1 dn | 72 kb | P | CdL syndrome (OMIM#122470) |
10 | Multiple congenital anomalies | arr[hg19] 6p25.3p25.1(206,749–5,507,458) × 3 dn | 5,3 Mb | P | ORPHA1745 |
11 | Ambiguous genitalia (karyotype 46,XY) | arr[hg19] 9p24.3(220,253–1,999,170)x1 mat | 1,7 Mb | P | 9p24.3 deletion syndrome, 46,XY sex reversal (OMIM#154230) |
12 | Multicystic kidney | arr[hg19] 15q11.2(22,765,628–23,217,514) × 1 mat | 452 kb | VOUS | 15q11.2 risk factor locus, inherited from the mother with mild learning diffuculties |
13 | Cystic higroma, IUGR | arr[hg19] 15q13.2q13.3(30,653,877–32,861,626) × 3 dn | 2,2 Mb | LP | 8 OMIM genes, DECIPHER cases |
14 | Pyelectasis, short femur | arr[hg19] 16p13.3(1,917,269–2,527,114) × 3 pat | 610 kb | VOUS | Inherited from healthy father |
15 | Multiple congenital anomalies | arr[hg19] 16p13.12p11.2(14,145,698–29,331,350) × 3 dn | 15,2 Mb | P | De novo, many genes |
16 | IUGR, multicystic kidney | arr[hg19] 16p12.2(21,837,492–22,407,931) × 1 mat | 570 kb | SF, P** | 16p12.1 deletion syndrome (OMIM#136570) |
17 | Multiple congenital anomalies | arr[hg19] 16p11.2(29,592,783–30,190,568) × 3 dn | 610 kb | SF, P** | 16p11.2 duplication syndrome (OMIM#614671) |
18 | Bilateral pes equinovarus | arr[hg19] 16p11.2(29,673,954–30,190,568) × 1 pat | 516 kb | SF, P** | 16p11.2 deletion syndrome (OMIM#611913) |
19 | Vertebral anomalies, scoliosis | arr[hg19] 16p11.2(29,673,954–30,190,568) × 1 | 516 kb | SF, P** | 16p11.2 deletion syndrome (OMIM#611913) |
20 | Increased NT | arr[hg19] 16q24.1(86,211,031–86,649,743) × 1 dn | 439 kb | P | FOXF1 (OMIM*601089) |
21 | Occipital meningocele | arr[hg19] 18p11.32p11.21(148,963–14,081,887) × 4 dn | 13,9 Mb | P | 18p tetrasomy (OMIM#614290) |
22 | Increased NT | arr[hg19] 20p13(60,747–748,964) × 1, 20q13.13q13.33(47,912,240–62,880,583) × 3 | 688 kb 15,0 Mb | P | Derived from paternal inversion of chromosme 20 |
23 | Bilateral cleft lip and palate | arr[hg19] 22q11.21(20,659,547–21,440,514)x3 pat | 781 kb | SF, P** | Atypical 22q11.2 duplication syndrome (OMIM#608363) |
24 | Hypoplastic nasal bone, cystic formation in abdomen | arr[hg19] Xp22.31(6,488,721–8,097,511) × 2 mat (male fetus) | 1,6 Mb | VOUS | Xp22.31 duplication [23] |
25 | Complex structural heart anomaly | arr[hg19] Xq13.3(74,463,757–74,651,249) × 3 (female fetus) | 188 kb | VOUS | ZDHHC15(OMIM*300576) |