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  • Title: Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.
    Author: Dixon JW, Costa T, Teshima IE.
    Journal: J Med Genet; 1993 Jan; 30(1):70-2. PubMed ID: 8423612.
    Abstract:
    We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically distinguishable syndrome for 12q duplication, in mosaic or non-mosaic form.
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