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Table 3 Clinical phenotypes of heterotaxy patients with CNVs carrying candidate genes

From: Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects

ID Segments Sizes (kb) Copy numbers Genes Patients’ cardiac abnormalities Extracardiac abnormalities
7 1q21.1 (145,625,128–145,927,662) 302.534 1 del RNF115 D, SA, PAVC, LSVC RAA, BI, right spleen, RSS, LSL
20 12q24.31 (123,357,010–124,310,519) 953.509 3 dup TCTN2, DNAH10 D, SA, TA, TGA, PA, VSD, PDA, LSVC RAA, BI, right spleen, RSS, LSL
40 14q24.2 (73,620,299–73,786,493) 166.194 3 dup NUMB D, DORV, PS, VSD, LSVC, SIV RAA, BI, right spleen, RSS, LSL
59 6q26 (163,549,870–163,842,358) 292.488 3 dup PACRG D, SA, SV, MGA, PS, CAVC, LSVC, IRAA LAA, BRB, asplenia, LSS, LCS
63 10q26.3 (134,358,785–134,921,135) 562.35 4 dup TTC40 D, DORV, PS, VSD, PDA, LSVC, SIV RAA, BI, right spleen, RSS, LSL
  1. dup duplication, del deletion, PDA patent ductus arteriosus, PS pulmonary stenosis, VSD ventricle septum defect, CAVC complete atrioventricular canal, PAVC partial atrioventricular canal, D dextrocardia, SA single atrium, SV single ventricle, TA tricuspid atresia, PA pulmonary atresia, TGA/MGA translocation of great arteries/malposition of great arteries, DORV double outlet right ventricle, IRAA isomerism of right atrial appendages, SIV superior-inferior ventricle, LSVC left superior vena cava, RAA right aortic arch, LAA left aortic arch, BI bronchial inversus, BRB bilateral right bronchi (short), RSS right-sided stomach, LSS left-sided stomach, LSL left-sided liver, LCS liver centrally situated
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Genome Medicine

ISSN: 1756-994X

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