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
. 1977 Oct 14;38(3):337-41.
doi: 10.1007/BF00402161.

A case of (13q;18q) translocation with proximal 13q monosomy

Y Suzuki, K Ono, S Oka, T Matsubara, M Arima, Y Nakagome
Case Reports

A case of (13q;18q) translocation with proximal 13q monosomy

Y Suzuki et al. Hum Genet. .

Abstract

A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.

PubMed Disclaimer

References

    1. Humangenetik. 1975 Jun 19;28(2):87-91 - PubMed
    1. Humangenetik. 1975 Jun 19;28(2):93-6 - PubMed
    1. Clin Genet. 1976 Jun;9(6):593-602 - PubMed
    1. J Pediatr. 1971 Jan;78(1):44-52 - PubMed

Publication types

LinkOut - more resources