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Article
August 1992

Chromosome 14—Terminal Deletion and Cataracts

Author Affiliations

Washington, DC; Miami, Fla

Arch Ophthalmol. 1992;110(8):1053. doi:10.1001/archopht.1992.01080200033015
Abstract

The subject of gene linkage to cataract formation continues to challenge ophthalmic and genetic researchers as it has done for years. Presented herein are the salient ophthalmologic features of a unique case of unilateral cataract associated with a chromosome 14 deletion.

Report of a Case.  —The proband was an infant girl with multiple congenital anomalies associated with a rare terminal deletion of chromosome 14 (karyotype, mos46,XX/46,XX,del[14][q32.3]=36%:64%).Systemic anomalies included psychomotor retardation; craniosynostosis of the coronal sutures, with brachycephaly; low-set ears; small mouth; small nose with a depressed nasal bridge; maxillary hypoplasia; borderline digitalized thumbs; esophageal atresia with tracheoesophageal fistula; and intestinal malrotation.Ocular findings included a unilateral nuclear cataract of the left eye, small orbits, and antimongoloid slant. The corneas were of normal size, and no retinal abnormalities were noted.

Comment.  —Cataract is a manifestation of a number of chromosomal syndromes; however, in our review of the literature, no

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