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A Report of Paracentric Inversion of Chromosome 8 in Moebius Syndrome.

Authors :
Kersey, James P.
Vivian, Anthony J.
Reid, Evan
Source :
Ophthalmic Genetics. Mar2006, Vol. 27 Issue 1, p29-31. 3p. 1 Diagram.
Publication Year :
2006

Abstract

An eight-year-old girl with bilateral facial paresis and restricted eye movements was diagnosed with Moebius syndrome. A chromosomal analysis showed a paracentric inversion on the long arm of chromosome 8 (46, XX, inv(8) (q21.3q24.13)). Candidate genes have been found on chromosomes 3q21, 10q21, and 13q12. We discuss the genes which are known to have associated ocular movement dysfunction in the 8q21-24 region. We hope this case will add to the current body of knowledge regarding Moebius syndrome and its genetics. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
13816810
Volume :
27
Issue :
1
Database :
Academic Search Index
Journal :
Ophthalmic Genetics
Publication Type :
Academic Journal
Accession number :
20070263
Full Text :
https://doi.org/10.1080/13816810500481873