Microarray in clinical practice – utility vs complexity. Mixed phenotype of duplication 15q11.2q13.1 and deletion 16p11.2

Introduction: There’s a consensus to perform chromosomal microarray technique as first-tier clinical diagnostic test for individuals with developmental disabilities. However, given the complexity of clinical presentations, often several diagnostic methods are held before conducting microarray. Metho...

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Detalhes bibliográficos
Autor principal: Antunes, Diana (author)
Outros Autores: Rodrigues, M.I. (author), Carvalho, I. (author), Freixo, J.P. (author), Marques, B. (author), Pedro, S. (author), Kay, T. (author), Correia, H. (author), Castedo, S. (author), Nunes, L. (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2015
Assuntos:
Doenças genéticas
Duplicação
Deleção
15q11.2q13.1
16p11.2
Microarray
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/2825
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2825

Texto Completo

http://hdl.handle.net/10400.18/2825

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