Cerebral germ cell tumor and XXY karyotype.
Metaphases from a cultured cerebral germ cell tumor (CGCT) in a boy with a 46,XY constitutional karyotype had 47 chromosomes with an additional X chromosome and a translocation (1;21)(q11;p11). CGCT appear to be nonrandomly associated with Klinefelter syndrome, and a supernumerary X chromosome and trisomy of the 1q21-->1qter region may be clonal abnormalities in these tumors. The predisposition of Klinefelter patients to develop CGCT may be due to the pathogenetic relevance of the extra X chromosome both as an acquired and a constitutional abnormality.
Casalone
R
R
Biologia Generale e Genetica Medica, Università di Pavia, Italy.
Righi
R
R
Granata
P
P
Portentoso
P
P
Minelli
E
E
Meroni
Solero
C L
CL
Allegranza
A
A
D000293:Adolescent; D000328:Adult; D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D006801:Humans; D066298:In Vitro Techniques; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics; D008297:Male; D013724:Teratoma / Q000235:genetics*; D014407:Tumor Cells, Cultured; D014960:X Chromosome