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  • Title: De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.
    Author: Magri C, Piovani G, Pilotta A, Michele T, Buzi F, Barlati S.
    Journal: Eur J Med Genet; 2011; 54(3):361-4. PubMed ID: 21211576.
    Abstract:
    To date, more than 100 cases with a deletion of chromosome 2q have been identified, although studies reporting small interstitial deletions involving the 2q24.2-q24.3 region are still rare. Here, we have described the genotype and the phenotype of a boy with a 5.3 Mb de novo deletion in this region, identified by SNP array analysis. The selected region included 20 genes, of which 4 are prominently expressed in the brain. Their combined haplo-insufficiency could explain the main clinical features of this patient which included mental retardation, severe hypotonia, joint laxity and mild dysmorphic traits.
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