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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Bibliographic Details
Main Author: Antunes, Diana (author)
Other Authors: 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)
Format: conferenceObject
Language:eng
Published: 2015
Subjects:
Doenças genéticas
Duplicação
Deleção
15q11.2q13.1
16p11.2
Microarray
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/2825
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2825

Internet

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

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