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Research Article
A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
  1. M Ireland,
  2. C English,
  3. I Cross,
  4. W T Houlsby,
  5. J Burn
  1. Department of Human Genetics, University of Newcastle upon Tyne.

    Abstract

    A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.

    https://doi.org/10.1136/jmg.28.9.639

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