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Case Reports
. 1993 May;30(5):438-9.
doi: 10.1136/jmg.30.5.438.

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)

J Ward  1 , E Vieto, D Lee, G Arosemena
Affiliations
Case Reports

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)

J Ward et al. J Med Genet. 1993 May.

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).

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