A boy with 13q deletion syndrome and bilateral retinoblastoma diagnosed owing to poor weight gain and developmental delay

Abstract

　An 8-month-old Japanese boy had been found at the 7-month health checkup to have poor weight gain and developmental delay. Bilateral retinoblastoma was diagnosed owing to bilateral intraocular neoplastic lesions found with magnetic resonance imaging and funduscopy. Chromosome examination revealed deletion of 46, XY, del (13) (q14q22), and the fluorescence in situ hybridization revealed deletion of region 13q14 of the RB transcriptional corepressor 1 gene (RB1)． Furthermore, the multiplex ligation-dependent probe amplification identified total deletion of exons 1 to 27 of RB1. These results led to the diagnosis of 13q deletion syndrome associated with retinoblastoma. In such cases, retinoblastoma must be treated and multifocal support, such as an early rehabilitation program against developmental delay, follow-up for future development of secondary cancer, and genetic counseling for the parents, should be suggested.