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

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)285-287
Number of pages3
JournalAmerican Journal of Ophthalmology
Volume133
Issue number2
DOIs
StatePublished - Jan 29 2002

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Retinoblastoma
Chromosomes, Human, Pair 13
Genetic Translocation
Chromosome Aberrations

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

Retinoblastoma in a patient with an X;13 translocation and facial abnormalities consistent with 13q-syndrome. / Laquis, Stephen J.; Rodriguez-Galindo, Carlos; Wilson, Matthew; Fleming, James; Haik, Barrett G.

In: American Journal of Ophthalmology, Vol. 133, No. 2, 29.01.2002, p. 285-287.

Research output: Contribution to journalArticle

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