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  • Volume 30, Issue 5
  • Acrocephalopolysyndactyly, pentalogy of Fallot, and hypoacusis in a patient with a de novo reciprocal translocation involving the short arm of chromosome 1 and the long arm of chromosome 18: 46,XX,t(1;18)(p31;q11)

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Acrocephalopolysyndactyly, pentalogy of Fallot, and hypoacusis in a patient with a de novo reciprocal translocation involving the short arm of chromosome 1 and the long arm of chromosome 18: 46,XX,t(1;18)(p31;q11)
  1. John Ward,
  2. Eduardo Vieto,
  3. David Lee,
  4. Gloriela Arosemena
  1. Sección de Genética Clinica, Complejo Hospitalario Metropolitano, Caja de Seguro Social, Panamá.

    Abstract

    We present a female patient with acrocephalopolysyndactyly, pentalogy of Fallot, psychomotor retardation, and hypoacusis with a de novo, apparently balanced, reciprocal translocation 46,XX,t(1;18)(p31;q11).

    https://doi.org/10.1136/jmg.30.5.438

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