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

✍ Scribed by Stephen J Laquis; Carlos Rodriguez-Galindo; Matthew W Wilson; James C Fleming; Barrett G Haik

Book ID
117018073
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
196 KB
Volume
133
Category
Article
ISSN
0002-9394

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Cytogenetic and molecular investigation
Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma
✍ Stambolian, Dwight ;Sellinger, Beatrice ;Derrington, Dennis ;Sargent, Robert ;Em πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 656 KB

We report on a 4-year-old girl with retinoblastoma and de novo balanced translocation [46,X,t (X;13) (q23;q13)1. Unilateral retinoblastoma was discovered at age 9 months along with developmental delay and several manifestations of Tbrner syndrome. Chromosome studies showed an W13 translocation and a