Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma

✍ Scribed by Stambolian, Dwight ;Sellinger, Beatrice ;Derrington, Dennis ;Sargent, Robert ;Emanuel, Beverly S.

• Publisher: John Wiley and Sons
• Year: 1992
• Tongue: English
• Weight: 656 KB
• Volume: 42
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320420604

✦ Synopsis

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 an X inactivation pattern showing the translocated X chromosome active in all 50 cells examined. Standard Southern blot analysis and pulsed field gel electrophoresis using a 3.8 kb EcoRl fragment of the cDNA probe to the 3' end of the RB1 locus demonstrated a normal genomic pattern. The results of the cytogenetic and molecular analysis suggests that the RBI locus has not been disrupted by the chromosome rearrangement. This case is the fifth report of an W13 translocation associated with a retinoblastoma.