Skip to main content

Table 1 CNVs identified in the iUPD4 case

From: Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations

Subject CNVs region CNV State Type Sizes Genes within CNVs Function
Fetus chr6:254,253-320,842 1 Loss 67Kb DUSP22 Benign
  chr14:106,251,069-106,736,227 3 Gain 485Kb KIAA0125 Benign
ADAM6
Father chr14: 106,167,581-106,769,864 3 Gain 602Kb KIAA0125 Benign
ADAM6
LINC00226
Mother chr14:106,167,581-106,766,782 3 Gain 599Kb KIAA0125 Benign
ADAM6
LINC00226
  chr5:17,398,797-17,701,556 3 Gain 303Kb / Benign
  chr7:89,367,271-90,601,186 3 Gain 314Kb DPY19L2P4 Benign
STEAP1, STEAP2 et al.