Trisomy 8 mosaicism syndrome 1

General: Chromosomally abnormal cell line with each cell co 636j95g ntaining an extra chromosome 8; other cell lines normal; both sexes affected; present from birth.

Ocular: Strabismus; hypertelorism; deep-set eyes.

Clinical: Mild-to-moderate mental retardation; low-set or malformed ears; broad, bulbous nose; palatal deformity; congenital cardiovascular disorders; hydronephrosis; cryptorchidism; poor coordination; prominent forehead; enlarged nares; full lips; cupped ears; camptodactyly of fingers and toes; reported as a nonrandom secondary change in myxoid liposarcoma.

Fineman RM, et al. Trisomy 8 mosaicism syndrome. Pediatrics 1975; 56:762-767.

Geeraets WJ Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.