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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 (6.2 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 (5.2 Mb) Decipher number 249539 None
Dup 17q12 (1.4 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 (6.4 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 (6.7 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 (0.75 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 (1.3 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
  1. ASD atrial septal defect, PDA patent ductus arterious, PS pulmonary stenosis, VSD ventricular septal defect, TOF tetralogy of Fallot, PLSVC persistent left superior vena cava, AS aortic stenosis, IAA,A interruption arterial arch, A type, COA coarctation of the aorta, D-TGA d-transposition of the great arteries, DD development delay, ID intellectual disabilities
  2. aAge column: y, years; m, months; d, days
  3. bAccordion to CHD wiki (http://homes.esat.kuleuven.be/~bioiuser/chdwiki/index.php/Main_Page)and OMIM database (http://www.omim.org)