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ISSN 2070-8718 (Print)

2011, Number 3

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Rev Cub Gen 2011; 5 (3)

Updating the molecular bases of the Cornelia de Lange syndrome concerning three cases

Lardoeyt FR, Díaz EM, Terroba CÁ

Language: Spanish
References: 17
Page: 133-138
PDF size: 745.55 Kb.


ABSTRACT

During the clinical genetic study of intellectual disability in the Republic of Ecuador monogenic entities were diagnosed that are accompanied by this type of disability. One of these diseases is the Cornelia de Lange syndrome, whose prevalence in the world is reported to be 0,6 per 100 000 inhabitants. This disorder is characterized by facial findings, retarded growth, hirsute individuals and reduced extremities effects. The objective of this article is to present three Cornelia de Lange cases diagnosed in the investigation and to update the molecular bases of the disease. It is concluded that this syndrome is a genetically heterogeneous disorder, a fact that explains the variable expressivity of its clinical phenotype, confirmed in the three cases presented.


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