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
. 1980 Aug;17(4):316-9.
doi: 10.1136/jmg.17.4.316.

13q-/r(13) mosaicism

N Niikawa, T Tamura, F Tomiyasu, T Kajii
Case Reports

13q-/r(13) mosaicism

N Niikawa et al. J Med Genet. 1980 Aug.

Abstract

A 2-month-old female infant with typical features of the 13q-syndrome was found to be a hitherto unreported mosaic consisting of 46,XX,del(13)(q22)-46,XX,r(13)(p13q22). Both of the 13q- and r(13) chromosomes were Ag N banding positive. Therefore, it was assumed that they had retained the satellite stalks. Two possible mechanisms were proposed for the genesis of the mosaicism. Firstly, the patients started with the 13q- chromosome, which then underwent breakage and reunion at both ends to form the r(13) chromosome. Secondly, the patients started with the r(13) chromosome, which reopened at or close to the joining point to form the 13q- chromosome.

PubMed Disclaimer

References

    1. Am J Hum Genet. 1972 Mar;24(2):227-8 - PubMed
    1. J Med Genet. 1974 Jun;11(2):177-80 - PubMed
    1. Humangenetik. 1974;21(3):283-6 - PubMed
    1. Clin Genet. 1976 Jun;9(6):593-602 - PubMed
    1. Hum Genet. 1976 Oct 28;34(2):199-206 - PubMed

Publication types