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Research Article
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.
  1. I D Young,
  2. J M Zuccollo,
  3. E L Maltby,
  4. N J Broderick
  1. Department of Clinical Genetics, City Hospital, Nottingham.

    Abstract

    A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is likely to be the site of the campomelic dysplasia locus.

    https://doi.org/10.1136/jmg.29.4.251

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