Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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).

PubMed Disclaimer

References

    1. Clin Genet. 1983 Oct;24(4):257-65 - PubMed
    1. Am J Dis Child. 1972 Jun;123(6):561-4 - PubMed
    1. Clin Genet. 1986 Nov;30(5):399-405 - PubMed
    1. Clin Genet. 1980 Dec;18(6):434-5 - PubMed
    1. Humangenetik. 1973 May 25;18(3):247-52 - PubMed

Publication types