• Two patients with retinoblastoma and an interstitial deletion of the long arm of chromosome 13 were studied using G-banded metaphase and prophase chromosomes. One patient showed several congenital defects, developmental retardation, and deletion of bands q14 and q21. The second patient showed mild developmental delay, a few minor congenital defects, and a loss of approximately half of band q14. On the basis of this study and nine others from the literature, it is now possible to tentatively assign a predisposition to retinoblastoma to deletion of a specific small region of chromosome 13.
(Am J Dis Child 132:161-163, 1978)
Yunis JJ, Ramsay N. Retinoblastoma and Subband Deletion of Chromosome 13. Am J Dis Child. 1978;132(2):161–163. doi:10.1001/archpedi.1978.02120270059012
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