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
. 1995 Apr;32(4):306-8.
doi: 10.1136/jmg.32.4.306.

Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion

V P Prasher  1 , E Roberts, A Norman, A C Butler, V H Krishnan, D J McMullan
Affiliations
Case Reports

Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion

V P Prasher et al. J Med Genet. 1995 Apr.

Abstract

A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, colobomata, and very poor vision. Similarities between this case and other case reports of duplications of the long arm of chromosome 22 are discussed.

PubMed Disclaimer

References

    1. Hum Genet. 1976 Oct 28;34(2):199-206 - PubMed
    1. Am J Med Genet. 1993 Apr 1;46(1):109-12 - PubMed
    1. Hum Genet. 1980;55(1):87-98 - PubMed
    1. Hum Genet. 1981;57(2):148-58 - PubMed
    1. Hum Genet. 1981;56(3):263-8 - PubMed

Publication types

Substances