par Oğur, G;Sengun, Z;Arel-Kiliç, G;Debusscher, Claire ;Başaran, S;Ozbek, U;Ayan, I;Sariban, Eric ;Vamos, E
Référence Cancer genetics and cytogenetics, 89, 1, page (77-81)
Publication Publié, 1996-07
Référence Cancer genetics and cytogenetics, 89, 1, page (77-81)
Publication Publié, 1996-07
Article révisé par les pairs
Résumé : | 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, XXY(c),del(13)(q12q14.2) in PHA-stimulated lymphocytes. The rhabdomyosarcoma case yielded 46,XY/ 47,XXY(c) 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. |