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.
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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