Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry


  • Catarina Freitas Serviço de Pediatria, Hospital Pedro Hispano, Unidade Local de Saúde de Matosinhos
  • Paula Rendeiro Laboratório de Citogenética, CGC genetics
  • Maria José Costa Serviço de Neonatologia, Hospital Pedro Hispano, Unidade Local de Saúde de Matosinhos



cat-like cry, chromosome 5, Cri-du-chat, facial dysmorphism, microcephaly


Cri-du-chat syndrome is a rare disorder caused by a deletion of part of the short arm of chromosome 5. It is characterized by the presence of clinical features at birth, namely cat-like cry, low weight, microcephaly, and facial dysmorphism. The corresponding phenotypes vary from minimal features to a complete phenotype.
Herein is described the case of an infant who presented from birth with cat-like cry and a peculiar face with a wide nasal bridge and thin upper lip. The genetic study revealed a very small deletion on the short arm of chromosome 5, which has not been described in the literature and may represent a novel variant of this recurrent deletion. Furthermore, since the main feature of this case is the cat-like cry, the considered deletion (detected only by microarray analysis) could be associated with this specific feature.


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How to Cite

Freitas C, Rendeiro P, Costa MJ. Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry. REVNEC [Internet]. 2023Nov.16 [cited 2023Dec.10];32(3):228-31. Available from:



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