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
. 1982 Jun;19(3):222-4.
doi: 10.1136/jmg.19.3.222.

Inherited partial X chromosome duplication in a mentally retarded male

K B Nielsen, F Langkjaer
Case Reports

Inherited partial X chromosome duplication in a mentally retarded male

K B Nielsen et al. J Med Genet. 1982 Jun.

Abstract

A mentally retarded male patient with a structurally abnormal X chromosome is reported (karyotype 46, dir dup (X)(p11.2 leads to p21.2)Y). In the normal mother a similar X chromosome duplication was found, which was preferentially inactivated. Xg blood groups were studied in the family. The findings indicated that recombination took place at maternal meiosis, as both karyotypically normal sons and the proband were Xg(a-), the mother being Xg(a+). Functional X chromosome disomy may explain clinical abnormalities in reported patients with X duplication and a normal Y chromosome.

PubMed Disclaimer

References

    1. Humangenetik. 1974;25(1):1-16 - PubMed
    1. Humangenetik. 1975;26(1):35-46 - PubMed
    1. Nature. 1977 Jan 13;265(5590):142-4 - PubMed
    1. Cytogenet Cell Genet. 1977;18(6):333-48 - PubMed
    1. Hum Genet. 1978 Apr 24;41(3):269-79 - PubMed

Publication types

LinkOut - more resources