Sentence Examples

  • Although most children with DiGeorge syndrome do not inherit the chromosome deletion from their parents, they have a 50 percent chance of passing the deletion on to their own children.
  • Although methylation testing can accurately diagnose PWS, it cannot determine if the PWS is caused by a deletion, maternal uniparental disomy, or a mutation that disrupts imprinting.
  • Cri du chat syndrome is also called 5p minus syndrome or chromosome 5p deletion syndrome because it is caused by a deletion, or removal, of genetic material from chromosome 5.
  • The mutations in this gene are point mutations because they involve a change (either deletion, substitution, or insertion) at one specific component of a gene.
  • If a child has PWS due to a sporadic deletion in the paternal chromosome 15, the chance the parents could have another child with PWS is less than 1 percent.