Author/Authors :
O?ur، نويسنده , , G. and Sengun، نويسنده , , Z. and Arel-Kiliç، نويسنده , , G. and De Busscher، نويسنده , , C. and Ba?aran، نويسنده , , Ayda S. Agar Ozbek، نويسنده , , U. and Ayan، نويسنده , , I. and Sariban، نويسنده , , E. and Vamos، نويسنده , , E.، نويسنده ,
Abstract :
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 momosaic 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.