Chromosome 13q partial deletion (long-arm syndrome; 13q syndrome)    245

General: No hereditary factor.

Ocular: Microphthalmos; antimongoloid slant of lid fissures; bilateral epicanthus; esotropia; cataract; choroidal coloboma; ptosis; retinoblastoma.

Clinical: Genital malformations; meningocele; short neck; small mouth; mental and physical retardation; small head; short stature; broad nasal bridge; simian crease; microcephaly; high nasal bridge; thumb hypoplasia.

Kennerknecht I, et al. Diagnosis of retinoblastoma in a presymptomatic stage after detection of interstitial chromosomal deletion 13q. Ophthalmic Genet 1994; 15:19-24.

Kivela T, Tuppurainen K, Riikonen P, et al. Retinoblastoma associated with chromosomal 13q14 deletion mosaicism. Ophthalmology 2003; 110: 1983-l988.

Larned DC, et al. Association of congenital ptosis and congenital heart disease. Ophthalmology 1986; 93:492-494.

Pratt CB, et al. Outcome for patients with constitutional 13q chromosomal abnormalities and retinoblastoma. Pediatr Hematol Oncol 1994; 11:541-547.

Weiss A, Margo C. Bilateral microphthalmos with cyst and 13q deletion syndrome. Arch Ophthalmol 1987; 105:25.

Wilson L, et al. Cytogenetic analysis of a case of '13q- syndrome' (46, XX, del 13) using band technique. J Pediatr Ophthalmol Strabismus 1980; 17:63-67.