Clinical genetics

  1. Research

    MLPA analysis in a cohort of patients with autism

    Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an importan...

    Sara Peixoto, Joana B. Melo, José Ferrão, Luís M. Pires, Nuno Lavoura, Marta Pinto, Guiomar Oliveira and Isabel M. Carreira

    Molecular Cytogenetics 2017 10:2

    Published on: 4 February 2017

  2. Case Report

    A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

    Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5–431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy.

    Mara Giordano, Valentina Muratore, Deepak Babu, Cristina Meazza and Mauro Bozzola

    Molecular Cytogenetics 2016 9:89

    Published on: 3 December 2016

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