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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

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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