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