Cri-du-chat syndrome

Cri-du-chat (5p minus) is caused by a partial deletion of the short arm of chromosome 5. The disorder is characterized by intellectual disability, developmental delay, microcephaly, hypotonia, distinctive facies, heart defects, and a characteristic cat-like cry. Most cases are not inherited (de novo) but transmission from an unaffected parent carrying a balanced translocation is seen in ~10% of cases. View testing options