A report of paracentric inversion of chromosome 8 in Moebius syndrome.
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.
Kersey
James P
JP
Ophthalmology Department, West Suffolk Hospital, Hardwick Lane, Bury St. Edmunds, Suffolk IP33 2QZ, UK. jkersey@onetel.net
Vivian
Anthony J
AJ
Reid
Evan
E
D002648:Child; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D020331:Mobius Syndrome / Q000235:genetics*