Table 3

CNVs identified in four patients

Case numberCNVChromosomePosition-startPosition-endDel/dupSizeCopy numberPhenotype
P1361p36.33–1 p36.32 delchr1955 5022344010del1.4 Mb1Congenital heart disease (PDA/PFO/PAH/ventricular septal defect), cardiac insufficiency, infection and neonatal hyperbilirubinemia
P169*1q21.1–1q21.2 delchr1145 209 118147381393del2.2 Mb1Acute liver failure, neonatal thrombocytopenia, neonatal sepsis, neonatal hypoglycemia, immunodeficiency, disseminated intravascular coagulation, cholestasis, hypoproteinemia, neonatal respiratory failure, neonatal pulmonary haemorrhage, hyperammonemia, ascites, neonatal pneumonia, neonatal anaemia and hyperlactic acidosis
P17210q11.22–10q11.23 delchr1048 381 48651 590 734del3.2 Mb1Neonatal bronchopulmonary dysplasia, ventricular septal defect, PDA/PFO/PAH, neonatal sepsis, neonatal respiratory distress syndrome, neonatal necrotising enterocolitis, anaemia and hypoproteinemia
P132†15q11.2-15q13.1 delchr1523 043 27628327041del5.3 Mb1Complete pulmonary venous ectopic drainage, cardiac insufficiency, PDA/PFO/PAH, pale skin, hypotonia, cryptorchidism and feed difficulty
  • *With biallelic variants of unknown significance in ADAMTS13.

  • †The deletion encompasses the OCA2 gene and this patient is also heterozygous for an OCA2 SNV of unknown significance.

  • PAH, pulmonary artery hypertension; PDA, patent ductus arteriosus; PFO, patent foramen ovale; SNV, single nucleotide variant.