Abstract

FREITAS, Catarina; RENDEIRO, Paula  and  COSTA, Maria José. Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry. Nascer e Crescer [online]. 2023, vol.32, n.3, pp.228-231.  Epub Sep 30, 2023. ISSN 0872-0754.  https://doi.org/10.25753/birthgrowthmj.v32.i3.25666.

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.

Keywords : cat-like cry; chromosome 5; Cri-du-chat; facial dysmorphism; microcephaly.

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