Caracterizacion clinica-genetica-molecular de una poblacion de pacientes colombianos con 5p-

  • Hurtado Villa, Paula Margarita (PI)
  • Ramirez Cheyne, Julián Andrés (CoI)

Project: Research

Project Details

Description

Cri Du Chat syndrome is a chromosome alteration characterized by microcephaly, round face, hypertelorism, micrognathia, epicanthal folds, low set ears, hypotonia, severe psychomotor retardation and mental and a high pitched cry similar to the meow of a cat. This syndrome affects among 1 in 20 000 to 1 in 50 000 births and to1% of severe mental retardation patients. It is caused by anomalies in the genes located in 5p. With this work we intend to analyze the clinical, genetic and molecular characteristics of Colombian patients with syndrome of Cri Du Chat.
StatusFinished
Effective start/end date01/01/1131/12/11

Project Status

  • Finished

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