Retinoblastoma and subband deletion of chromosome 13.
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.
D000015:Abnormalities, Multiple; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012175:Retinoblastoma / Q000235:genetics*