title: Duane syndrome in association with 48,XXYY karyotype.
abstract: Duane syndrome is an ocular motility disorder consisting of deficient horizontal eye movements, eyelid retraction, palpebral fissure narrowing, and abnormal vertical eye movements. It occurs in 1%-5% of patients with strabismus and has also been reported in several syndromes and chromosome abnormalities. Although most cases are sporadic, autosomal-dominant inheritance is seen in up to 10% of cases. Recently, Duane syndrome has been reported to occur in the setting of chromosomal duplication. The 48,XXYY syndrome is a rare syndrome involving duplication of the sex chromosomes. Ocular abnormalities are not typical of this condition. We report the first case of Duane syndrome presenting in an 8-month-old boy with XXYY syndrome. This case lends further support to the association of chromosomal duplication and Duane syndrome.
authors.affiliation: Department of Ophthalmology, North Shore-Long Island Jewish Health System, New Hyde Park, NY, USA.
authors.forename: Adina
authors.initials: A
authors.lastname: Weis
authors.forename: Martin G
authors.initials: MG
authors.lastname: Bialer
authors.forename: Sylvia
authors.initials: S
authors.lastname: Kodsi
mesh_terms: D058674:Chromosome Duplication / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004370:Duane Retraction Syndrome / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations