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
. 1981 Feb;18(1):68-71.
doi: 10.1136/jmg.18.1.68.

Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation

M B Jenkins, R Kriel, L Boyd
Case Reports

Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation

M B Jenkins et al. J Med Genet. 1981 Feb.

Abstract

A case of trisomy 14q mosaicism is described and compared with three other similar reported cases. The clinical picture is characterised by severe developmental retardation, failure to thrive, and somatic abnormalities including skeletal asymmetry, high arched or cleft palate, and low set dysplastic ears. The present chromosome imbalance probably resulted from dissociation of a balanced 14q15q translocation with subsequent formation of a 14q isochromosome.

PubMed Disclaimer

References

    1. Humangenetik. 1970;10(3):254-68 - PubMed
    1. Ann Hum Genet. 1970 Jul;34(1):39-50 - PubMed
    1. Humangenetik. 1972;16(3):217-26 - PubMed
    1. Ann Hum Genet. 1974 May;37(4):359-76 - PubMed
    1. J Med Genet. 1974 Sep;11(3):306-9 - PubMed

Publication types

LinkOut - more resources