Table 3 Pathogenic copy number variants and variants of unknown significance detected by Chromosome Microarray Analysis in children with CHD
From: Chromosome microarray analysis in the investigation of children with congenital heart disease
Child | Agea | Phenotype | CNVs: Region and size | Known syndrome/Decipher number/OMIM number | Significant genes (bold fonts) /candidate genes relating to CHDb | |
|---|---|---|---|---|---|---|
Cardiac diagnosis | MCA or ID/DD | |||||
Pathogenic CNVs | ||||||
 1 | 8 y | ASD | ID | Dup 11q24.2-q25 (8.5 Mb) | Decipher number 255590 | None |
Del 1q43-q44 (6.2Â Mb) | Decipher number 284767 | None | ||||
 2 | 7 m | PS + ASD | None | Del 22q11.21 (3.2 Mb) | 22q11 deletion syndrome | TBX1 |
 3 | 10 m | PDA | Congenital anal atresia + DD | Dup 3p26.1-p24.3 (13.8 Mb) | Decipher number 260758 | CRELD1 ; RAF1 |
Del 6q13-q14.1 (5.2Â Mb) | Decipher number 249539 | None | ||||
Dup 17q12 (1.4Â Mb) | Decipher number 278456 | None | ||||
 4 | 4 y | PDA | Leukodystrophy | Del 1p36.33-p36.31(4.8 Mb) | 1p36 microdeletion syndrome | DVL1;SKI |
 5 | 13 m | ASD | DD | Del 15q24.1-q24.2 (3.1 Mb) | 15q24 recurrent microdeletion syndrome | STRA6 |
 6 | 5 y | PS | ID | Del 15q11.2-q13.1 (4.9 Mb) | Angelman/Prader-Willi syndrome | None |
 7 | 5 m | VSD | DD | Del 4p16.3-p16.2 (5.7 Mb) | Wolf-Hirschhorn syndrome | EVC2; EVC |
 8 | 2 m | ASD | Laryngeal cartilage dysplasia | Del 22q11.21 (2.4 Mb) | 22q11 deletion syndrome | TBX1 |
 9 | 2 y | VSD | ID | Del 22q11.21 (3.2 Mb) | 22q11 deletion syndrome | TBX1 |
 10 | 14 m | ASD | None | Del 22q11.21 (1.4 Mb) | 22q11 deletion syndrome | TBX1 |
 11 | 2 y | ASD | Cleft palate + ID | Dup 18q12.3 (0.64 Mb) | Schinzel-Giedion midface retraction syndrome | SETBP1 |
 12 | 2 y | AS + PS | DD | Del 7q11.23 (1.4 Mb) | Williams-Beuren syndrome | ELN |
 13 | 3 y | TOF + PLSVC + Pericardial defect | Diaphragmatic hernia + ID | Dup 2q12.3 (0.42 Mb) | Decipher number 287980 | None |
 14 | 1 m | IAA,A + VSD | fingers of both hands and left toe deformity | Dup Xp22.2 (0.72 Mb) | Opitz G/BBB syndrome | MID1 |
 15 | 1 y | PS + VSD | ID | Del 22q11.21 (3.2 Mb) | 22q11 deletion syndrome | TBX1 |
 16 | 15 m | PDA | DD | Del 1p36.33 (0.35 Mb) | Decipher number 106 | None |
Dup 17q25.1-q25.3 (6.4Â Mb) | Decipher number 249584 | None | ||||
 17 | 18 m | ASD | Cleft palate + DD | Del 4p16.3-p16.1 (7.6 Mb) | Wolf-Hirschhorn Syndrome | EVC2; EVC |
 18 | 11 d | IAA, A + VSD | None | Del 7q11.23 (1.4 Mb) | Williams-Beuren syndrome | ELN |
 19 | 8 m | AS + PS | DD | Del 7q11.23 (1.4 Mb) | Williams-Beuren syndrome | ELN |
 20 | 2 y | PS | None | Dup 15q21.1 (1.58 Mb) | Marfan syndrome | FBN1 |
 21 | 3 y | TOF | Absence of corpus callosum + cerebellar vermis hypoplasia + ID | Del 1q43-q44 (7.6 Mb) | Decipher number 249647 | None |
Dup 10p15.3-p14 (6.7Â Mb) | Decipher number 278831 | None | ||||
 22 | 3 y | COA + VSD + ASD | ID | LOH 6q24.1-q24.2 (5.2 Mb) | Decipher number 290225 | CITED2 |
 23 | 1 m | AS | Hemivertebra + Adduction deformity of thumb + Polydactyly + Funnel chest | Del 8q23.3-q24.11(1.24 Mb) | Cornelia de Lange syndrome 4 | RAD21 |
Dup 11p15.3-15.2 (0.75Â Mb) | None | None | ||||
 24 | 2 y | VSD | ID | Del 22q11.21 (3.2 Mb) | 22q11 deletion syndrome | TBX1 |
 25 | 2 y | PS | ID | Del 7q11.23 (1.5 Mb) | Williams-Beuren syndrome | ELN |
 26 | 2 m | AS | None | Del 7q11.23 (1.5 Mb) | Williams-Beuren syndrome | ELN |
 27 | 2 m | AS + PS | None | Del 7q11.23 (1.4 Mb) | Williams-Beuren syndrome | ELN |
 28 | 7 m | PDA | Cleft palate | Dup 22q11.21 (2.5 Mb) | 22q11 duplication syndrome | TBX1 |
 29 | 6 m | ASD + VSD | None | Dup 17q25.1-q25.3 (8.5 Mb) | Decipher number 254723 | None |
Del 20q13.33 (1.3Â Mb) | Decipher number 2615 | None | ||||
Variants of unknown significance | ||||||
 30 | 1 m | CoA + Heart Enlargement | None | Dup 11p15.4 (0.18 Mb) | None | STIM1 |
 31 | 1 m | AS + VSD | None | Dup 10q21.3 (0.4 Mb) | None | CTNNA3 |
 32 | 1 m | D-TGA + VSD + ASD | None | Dup 6q22.31 (0.36 Mb) | None | PLN |