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Table 1 Summary of the screening of the 22q11.2 region in CHD patients and their parents

From: Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

Patient Person tested Age (yrs) 22q11.2 region Methods used
A Patient 17 Deletion (de novo) MLPA, array-CGH
  Mother 47 Normal MLPA
  Father 49 Normal MLPA
B Patient 20 Triplication (paternally inherited with extra copy) MLPA, FISH, array-CGH
  Mother 61 Normal MLPA, FISH
  Father 63 Duplication MLPA, FISH, array-CGH
C Patient 24 Duplication (de novo) + TOP3B duplication MLPA, array-CGH
  Mother 55 Normal + TOP3B duplication MLPA
  Father 58 Normal MLPA
D Patient 11 Deletion (de novo) MLPA, FISH, array-CGH
  Mother 38 Normal MLPA
  Father 39 normal MLPA