title: Duane syndrome associated with features of the cat-eye syndrome and mosaicism for a supernumerary chromosome probably derived from number 22.
abstract: A 12-year-old boy with a supernumerary chromosome, probably derived from number 22, had typical features of Duane syndrome with limitation of abduction and retraction of the globe upon adduction. Additionally, the patient had antimongoloid slant of the eyes, epicanthal folds, preauricular sinuses, cardiac malformations, skeletal malformations, and mental retardation suggestive of the cat-eye syndrome. The cat-eye syndrome has been often associated with a supernumerary chromosome derived from number 22. Our patient's karyotype was 46,XY/47,XY, + mar, with the supernumerary chromosome probably derived from number 22. These findings supplement previous findings of chromosome 22 abnormality associated with an ocular motility disorder.
authors.forename: B
authors.initials: B
authors.lastname: Kalpakian
authors.forename: A E
authors.initials: AE
authors.lastname: Choy
authors.forename: R S
authors.initials: RS
authors.lastname: Sparkes
authors.forename: R R
authors.initials: RR
authors.lastname: Schreck
mesh_terms: D000782:Aneuploidy; D002648:Child; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics; D004370:Duane Retraction Syndrome / Q000175:diagnosis* / Q000235:genetics; D005124:Eye Abnormalities; D005133:Eye Movements; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000235:genetics