Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry
DOI:
https://doi.org/10.25753/BirthGrowthMJ.v32.i3.25666Keywords:
cat-like cry, chromosome 5, Cri-du-chat, facial dysmorphism, microcephalyAbstract
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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Copyright (c) 2023 Catarina Freitas, Paula Rendeiro, Maria José Costa
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