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Retinoblastoma in a patient with an X;13 translocation and facial abnormalities consistent with 13q-syndrome.

作者信息

Laquis Stephen J, Rodriguez-Galindo Carlos, Wilson Matthew W, Fleming James C, Haik Barrett G

机构信息

Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.

出版信息

Am J Ophthalmol. 2002 Feb;133(2):285-7. doi: 10.1016/s0002-9394(01)01287-9.

DOI:10.1016/s0002-9394(01)01287-9
PMID:11812445
Abstract

PURPOSE

To report a patient with an X;13 translocation and facial features of 13q-syndrome who developed retinoblastoma.

DESIGN

Observational case report.

METHODS

A 9-month-old girl known to have an X;13 chromosomal translocation with a break point at 13q12.1 and dysmorphic facial features characteristic of 13q-syndrome presented with leukocoria in her right eye.

RESULTS

By clinical examination, retinoblastoma was diagnosed in the right eye.

CONCLUSION

Chromosomal abnormalities on the long arm of chromosome 13 predispose to retinoblastoma formation and characteristic facial features.

摘要

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A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.一位患有视网膜母细胞瘤和严重智力障碍的女性患者，携带 X;13 平衡易位但 RB1 基因无重排：一例病例报告。
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