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

G Oğur; Z Sengun; G Arel-Kiliç; C De Busscher; S Başaran; U Ozbek; I Ayan; E Sariban; E Vamos

doi:10.1016/0165-4608(96)00352-4

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

Cancer Genet Cytogenet. 1996 Jul 1;89(1):77-81. doi: 10.1016/0165-4608(96)00352-4.

Authors

G Oğur¹, Z Sengun, G Arel-Kiliç, C De Busscher, S Başaran, U Ozbek, I Ayan, E Sariban, E Vamos

Affiliation

¹ University of Istanbul, Departments of Cancer, Genetics, Turkey.

PMID: 8689618
DOI: 10.1016/0165-4608(96)00352-4

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 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.

Publication types

Case Reports

MeSH terms

Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 7
Eye Neoplasms / genetics*
Humans
Klinefelter Syndrome / genetics*
Male
Retinoblastoma / genetics*
Rhabdomyosarcoma / genetics*