Article
[Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH].
Revista de neurologia - 16 Jul 2014
Ferreirós-Martínez Raquel, López-Manzanares Lydia, Alonso-Cerezo Concepción
Abstract excerpt
INTRODUCTION: The cri du chat syndrome (CDCS) come from a partial or total deletion of the short arm of chromosome 5, being one of the most common deletion syndromes in human beings. The great majority of patients are diagnosed between the first month and first year of life, but herein we report a finding of a CDCS in a woman with a suspect of spinocerebellar ataxia, and a family medical record of ataxia and...
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