Navegação por Assunto "Duplicação cromossômica"

Resultados 1-2 de 2

    • Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2 

      Corrêa, Thiago; Poswar, Fabiano de Oliveira; Feltes, Bruno César; Riegel, Mariluce (2020) [Artigo de periódico]
      In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat ...

    • New microdeletion and microduplication syndromes : a comprehensive review 

      Nevado Blanco, Julián; Mergener, Rafaella; Palomares-Bralo, María; Souza, Karen Regina Silva de; Vallespín García, Elena; Mena, Rocío; Martínez-Glez, Víctor; Palomino, María Ángeles; Santos Simarro, Fernando; García Miñaur, Sixto; García Santiago, Fé Amalia; Mansilla Aparicio, Elena; Fernández García-Moya, Luis; Torres Pérez Hidalgo, María Luisa de; Mariluce Riegel, Mariluce Riegel; Lapunzina Badía, Pablo D. (2014) [Artigo de periódico]
      Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies ...