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Research Article
Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.
  1. D Wellesley,
  2. I D Young,
  3. P Cooke,
  4. D F Callen,
  5. A Hockey
  1. Clinical Genetics Department, Irrabeena and Princess Margaret Hospital, Perth, West Australia.

    Abstract

    We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13----qter and partial deletion of 5p15.12----pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes.

    https://doi.org/10.1136/jmg.25.10.707

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