Abstract

RIBEIRO, Ilda Patrícia; CARREIRA, Isabel Marques  and  MELO, Joana Barbosa de. Abordagens citogenéticas e genómicas: perspetiva no diagnóstico em oncologia e nas patologias do neurodesenvolvimento. RILP [online]. 2018, vol.34, pp.149-172.  Epub July 29, 2021. ISSN 2182-4452.  https://doi.org/10.31492/2184-2043.rilp2018.34/pp.149-172.

Cytogenetic and genomic techniques allow a comprehensive or a more targeted characterization of the nuclear genome. The selection of the techniques to be used depends on the study’s aim; however, it is always important to correlate the genotype with the phenotype for a correct interpretation of the results. In this paper we present and discuss some of the main technologies in the field of cytogenetics and genomics used in the diagnosis and research, highlighting their advantages in such different areas such as oncology and neurodevelopmental disorders. Indeed, cancer is associated with several genetic and epigenetic alterations in cells that should be characterized and, in the same way, neurodevelopmental disorders, namely intellectual disability and autism spectrum disorders, that result from neurobiological alterations to the normal development of the fetus and/or child, frequently caused by genetic and epigenetic alterations. Therefore, both in cancer and neurodevelopment disorders the use of conventional and molecular cytogenetics and genomics techniques is essential for research, diagnosis and prognosis, in order to identify genetic alterations and epigenetic patterns associated to the development and progression of the disease.

Keywords : cytogenetics; genomics; epigenetics; cancer; neurodevelopmental disorders; copy number variation; diagnostic and prognostic biomarkers.

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