Clinical and cytogenetic studies of two cases of Klinefelter syndrome with hereditary retinoblastoma and rhabdomyosarcoma.

Ogur G., Sengun Z., ArelKilic G., DeBusscher C., Basaran S. , Ozbek U., ...Daha Fazla

Cancer genetics and cytogenetics, cilt.89, ss.77-81, 1996 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 89 Konu: 1
  • Basım Tarihi: 1996
  • Doi Numarası: 10.1016/0165-4608(96)00352-4
  • Dergi Adı: Cancer genetics and cytogenetics
  • Sayfa Sayıları: ss.77-81


Two children with Klinefelter syndrome (KS), one associated with bilateral hereditary retinoblastoma (RB) and the other with rhabdomyosarcoma (RMS) are reported, Both were boys and chromosomally mosaic for KS. The hereditary retinoblastoma case yielded 46,XY,del(13)(q12q14.2)/47, XXYc,del(13)(q12q14.2) in PHA-stimulated lymphocytes. The rhabdomyosarcoma case yielded 46,XY/47,XXYc in peripheral blood cells whereas tumor revealed trisomy 8, trisomy 7, and t(7;13)(q33;q32) in addition to 46,XY/47,XXYc mosaicism.