Children born with this chromosomal deletion have a characteristic mewing cat-like cry as infants that is thought to be caused by abnormal development of the larynx (organ in the throat responsible for voice production).
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.