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, sa.1, ss.77-81, 1996 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 89 Sayı: 1
  • Basım Tarihi: 1996
  • Doi Numarası: 10.1016/0165-4608(96)00352-4
  • Dergi Adı: Cancer genetics and cytogenetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier
  • Sayfa Sayıları: ss.77-81
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.