Article
Clinical characteristics of a sample of patients with cat eye syndrome.
Revista da Associacao Medica Brasileira (1992) - 1 Jan 2000
Rosa Rafael Fabiano Machado, Mombach Rômulo, Zen Paulo Ricardo Gazzola, Graziadio Carla, Paskulin Giorgio Adriano
Abstract excerpt
OBJECTIVE: Cat eye syndrome is considered a rare chromosome disease with a highly variable phenotype. The objective of this paper was to describe the clinical characteristics of a sample of patients with cat eye syndrome who were seen at our service. METHODS: This is a retrospective analysis of a sample of six patients with diagnoses of cat eye syndrome. All of these patients’ karyotypes exhibited the presence of...
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