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Research Article
Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.
  1. J W Dixon,
  2. T Costa,
  3. I E Teshima
  1. Medical Genetics and Cytogenetics, Wellington Hospital, New Zealand.

    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.

    https://doi.org/10.1136/jmg.30.1.70

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