Retinoblastoma and subband deletion of chromosome 13

Am J Dis Child. 1978 Feb;132(2):161-3. doi: 10.1001/archpedi.1978.02120270059012.


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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple
  • Chromosome Deletion*
  • Chromosomes, Human, 13-15*
  • Eye Neoplasms / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Retinoblastoma / genetics*