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  • Title: A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.
    Author: Genuardi M, Calvieri F, Tozzi C, Coslovi R, Neri G.
    Journal: Clin Dysmorphol; 1994 Oct; 3(4):292-6. PubMed ID: 7894733.
    Abstract:
    We describe a boy with an interstitial deletion of the proximal portion of chromosome 3q. Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.
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