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
. 1986 Oct;74(2):193-6.
doi: 10.1007/BF00282093.

De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

J Chelly, F Marlhens, B Le Marec, M Jeanpierre, M Lambert, G Hamard, B Dutrillaux, J C Kaplan
Case Reports

De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

J Chelly et al. Hum Genet. 1986 Oct.

Abstract

The single X chromosome of a girl with Turner syndrome (45,X) and typical Duchenne muscular dystrophy was investigated at the chromosomal and DNA levels. No visible abnormality of the residual X chromosome was found upon high-resolution R-banding. The DNA was analysed by Southern blotting and hybridization with seven cloned probes mapping in the Xp21 region where the Duchenne locus is thought to be located. A molecular deletion was detected with probes pERT 87.1, pERT 87.8, and pERT 87.15. The other probes (754, C7, 99.6, and RC8) gave a normal signal. The DNA alleles seen in the two parents indicated that the deletion found in the propositus had occurred de novo on a maternal X chromosome.

PubMed Disclaimer

References

    1. Hum Genet. 1983;65(2):209-10 - PubMed
    1. Hum Genet. 1985;70(1):92 - PubMed
    1. Am J Hum Genet. 1984 May;36(3):546-64 - PubMed
    1. Ann Genet. 1984;27(3):173-7 - PubMed
    1. C R Acad Sci Hebd Seances Acad Sci D. 1971 May 17;272(20):2638-40 - PubMed

Publication types

LinkOut - more resources