Cri du Chat is caused by deletion of parts of the majority of Chromosome 5, the fifth largest chromosome that is nearly 6% of the total DNA in an organism. This is a deletion mutation (when a section of a chromosome is deleted or destroyed).

The name of the gene that has been most related to Cri du Chat syndrome is CTNND2, which is connected with the severe intellectual disability in people with this condition.

Causes of Cri du Chat