Table 2 Phenotype, age and sex of patients with copy number variations
PatientSexAge*Heart defect
De novo
    1920M8 monthsAortic coarctation
    2289F3 weeksAbnormal lung vessels, oesophageal atresia, total anomolous pulmonary venous connection, ventricular septal defect
    1771F4 monthsVentricular septal defect, atrial septal defect
Familial
    2332F19 monthsAtrial septal defect, patent ductus arteriosus
    1789F2 weeksVentricular septal defect
    4770M14 monthsAortic coarctation
    1745F3 monthsTotal anomalous pulmonary venous connection
    1644M2 weeksDouble outlet right ventricle (Taussig–Bing type), coarctation of aorta
    2930M3 monthsTetralogy of Fallot
    3110F2 monthsVentricular septal defect
    1610M3 monthsVentricular septal defect
Unknown inheritance
    4875M7 weeksVentricular septal defect, patent ductus arteriosus
    1688M7 monthsPulmonary stenosis
    3488M9 yVentricular septal defect
    1952M10 yBicuspid aortic valve, aortic insufficiency
    3551F12 monthsAortic stenosis, bicuspid aortic valve
    1939F2 weeksSingle atrium, large ventricular septal defect, tricuspid valve dysplasia, right ventricular hypoplasia
    4876M3 weeksAortic coarctation, ventricular septal defect

  • *At the time of blood sampling.