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Association and chance occurrence of aniridia and retinoblastoma.

作者信息

To K W, Mukai S, Friedman A H

机构信息

Department of Ophthalmology, Rhode Island Hospital, Providence 02903.

出版信息

Am J Ophthalmol. 1994 Dec 15;118(6):820-2. doi: 10.1016/s0002-9394(14)72571-1.

DOI:10.1016/s0002-9394(14)72571-1
PMID:7977618
Abstract

PURPOSE/METHODS: A 9-month-old infant had inherited aniridia and unilateral retinoblastoma. Family history disclosed three generations of aniridia; yet there were no instances of retinoblastoma. The coincidental occurrence of retinoblastoma and aniridia is rare.

RESULTS/CONCLUSIONS: With DNA probes from within the retinoblastoma gene, we were able to determine that a retinoblastoma-predisposing mutation was not inherited with aniridia in this family. The occurrence of these two diseases in the same individual therefore represents a chance event.

摘要

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