Metaphases from a cultured cerebral germ cell tumor (CGCT) in a boy wi
th a 46,XY constitutional karyotype had 47 chromosomes with an additio
nal X chromosome and a translocation (1;21)(q11;p11). CGCT appear to b
e nonrandomly associated with Klinefelter syndrome, and a supernumerar
y X chromosome and trisomy of the 1q21-->1qter region may be clonal ab
normalities in these tumors. The predisposition of Klinefelter patient
s to develop CGCT may be due to the pathogenetic relevance of the extr
a X chromosome both as an acquired and a constitutional abnormality.