Browsing by Autor "Dianora Araque"

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    Características clínicas y citogenéticas en el síndrome de Wolf-Hirschhorn. Serie de casos
    (Universidad Internacional de La Rioja, 2015) Francisco Cammarata‐Scalisi; Michele Callea; Dianora Araque; María Angelina Lacruz-Rengel; Gloria Da Silva; Rodolfo Josué Ramírez; Fabiola López
    Wolf-Hirschhorn syndrome is a genetic entity produced by a partial deletion spanning the distal short arm of chromosome 4(4p16.3). The most common manifestations are craniofacial anomalies, psychomotor retardation and neurological disorders. The estimated incidence is 1 in 50,000 births, although there is an underdiagnosis of this entity. The aim of this study is to describe four clinical cases of Wolf-Hirschhorn syndrome with specific description of clinical and cytogenetic findings.