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Table 1 CNVs involved in the two patients (hg18)

From: Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

Patient Imbalance Size (MB) ISCN description Genes involved
1 del 2.47 22q11.21(17299942-19770514) × 1 More than 40 genes
including TBX1
  del 1.56 Xp22.31(6498721-8057511) × 1 HDHD1A, STS, VCX, PNPLA4
2 dup 2.84 22q11.21(17299942-20139009) × 3 More than 40 genes
including TBX1
  dup 0.605 15q13.3(29818304-30423251) × 3 CHRNA7
  del 0.209 16p13.2(6776911-6986220) × 1 RBFOX1