Trisomy 10q syndrome (10q+ syndrome)

General: Chromosome 10q trisomy (duplication) syn 646b11g drome.

Ocular: Microphthalmia; deep-set eyes; epicanthus; bilateral, enlarged, gray optic disks; distended retinal vessels; bilateral punctate yellow deposits near the macula and optic disk.

Clinical: Mental retardation; microcephaly; prominent forehead; upturned nose; bow shaped mouth; micrognathia; thick and flat helices of the ears; long slender limbs.

Neely K, et al. Ocular findings in partial trisomy 10q syndrome. Am J Ophthalmol l988;